ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.1179+1G>A

dbSNP: rs1594895847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790403 SCV000925641 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 2019-05-15 criteria provided, single submitter clinical testing

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