{"took":2,"total":1,"max_score":17.140947,"hits":[{"_id":"chr14:g.77746425T>C","_score":17.140947,"clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":177617,"alt":"C","chrom":"14","cytogenic":"14q24.3","gene":{"id":"29954","symbol":"POMT2"},"hg19":{"end":77746425,"start":77746425},"hg38":{"end":77280082,"start":77280082},"hgvs":{"coding":"NM_013382.7:c.1726-2A>G","genomic":["LRG_844:g.45801A>G","NC_000014.8:g.77746425T>C","NC_000014.9:g.77280082T>C","NG_008897.1:g.45801A>G"]},"rcv":{"accession":"RCV000153052","clinical_significance":"Pathogenic","conditions":{"identifiers":{"medgen":"C3661900"},"name":"not provided","synonyms":["none provided","RECLASSIFIED - ADRA2C POLYMORPHISM","RECLASSIFIED - ADRB1 POLYMORPHISM"]},"last_evaluated":"2014-02-17","number_submitters":1,"origin":"germline","preferred_name":"NM_013382.7(POMT2):c.1726-2A>G","review_status":"criteria provided, single submitter"},"ref":"T","rsid":"rs727503873","type":"single nucleotide variant","variant_id":166902}}]}