ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.975C>T (p.Ala325=)

gnomAD frequency: 0.00004  dbSNP: rs553878240
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Total submissions: 2
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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 RCV000216986 SCV000270444 likely benign not specified 2016-02-18 criteria provided, single submitter clinical testing p.Ala325Ala in exon 10 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/66494 of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs553878240).
Invitae RCV003546494 SCV004260257 likely benign not provided 2023-08-11 criteria provided, single submitter clinical testing

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