ClinVar Miner

Submissions for variant NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter)

dbSNP: rs587777497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000128528 SCV000172178 pathogenic Autosomal recessive nonsyndromic hearing loss 44 2014-06-15 no assertion criteria provided literature only
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000128528 SCV000249606 pathogenic Autosomal recessive nonsyndromic hearing loss 44 2014-11-20 no assertion criteria provided research

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