ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.732C>T (p.Arg244=)

dbSNP: rs397516779
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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 RCV000037539 SCV000061197 likely benign not specified 2011-12-01 criteria provided, single submitter clinical testing Arg244Arg in exon 8 of MYH7: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Arg244Arg in exon 8 of MYH7 (allele frequency = n/a)
Invitae RCV001404561 SCV001606463 likely benign Hypertrophic cardiomyopathy 14 2021-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381304 SCV002669774 likely benign Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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