ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val)

dbSNP: rs1263494333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921599 SCV002206735 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2021-08-24 criteria provided, single submitter clinical testing

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