ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=)

gnomAD frequency: 0.00002  dbSNP: rs1249282294
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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 RCV001498144 SCV001702886 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-07-31 criteria provided, single submitter clinical testing

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