ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1653G>A (p.Lys551=)

dbSNP: rs368160680
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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 RCV000035740 SCV000059391 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Lys551Lys in exon 16 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
Invitae RCV003748183 SCV004553581 likely benign Hypertrophic cardiomyopathy 2023-10-11 criteria provided, single submitter clinical testing

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