ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=)

gnomAD frequency: 0.00002  dbSNP: rs770304914
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218309 SCV000270121 likely benign not specified 2015-05-22 criteria provided, single submitter clinical testing p.Ala963Ala in exon 22 of DIAPH1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 1/6669 6 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org).
Athena Diagnostics Inc RCV000534862 SCV001143788 likely benign not provided 2019-04-18 criteria provided, single submitter clinical testing
Invitae RCV001409920 SCV001611955 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2021-05-22 criteria provided, single submitter clinical testing

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