ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3149-3del

dbSNP: rs79558427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722631 SCV000717143 benign not provided 2018-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498908 SCV002804646 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-05-12 criteria provided, single submitter clinical testing

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