ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1995G>A (p.Ser665=)

gnomAD frequency: 0.00001  dbSNP: rs876657514
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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 RCV000219466 SCV000270436 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Ser665Ser in exon 17 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.
PreventionGenetics, part of Exact Sciences RCV003947704 SCV004757451 likely benign MYH14-related condition 2019-03-20 criteria provided, single submitter 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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