ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)

gnomAD frequency: 0.00003  dbSNP: rs13175631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392217 SCV001593858 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908557 SCV004723532 likely benign DIAPH1-related disorder 2019-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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