ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=)

dbSNP: rs748159908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000395602 SCV000345448 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518150 SCV003467156 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-11-13 criteria provided, single submitter clinical testing

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