ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg)

gnomAD frequency: 0.00048  dbSNP: rs766804741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336345 SCV000453372 likely benign Autosomal dominant nonsyndromic hearing loss 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV002061256 SCV002384907 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-07-17 criteria provided, single submitter clinical testing

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