ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1815C>T (p.Asp605=)

gnomAD frequency: 0.00006  dbSNP: rs768380030
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Total submissions: 4
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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 RCV000601753 SCV000712104 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing p.Asp605Asp in exon 19 of MYBPC3: 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. It has been identified in 3/47758 all chro mosomes tested by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs768380030).
Color Diagnostics, LLC DBA Color Health RCV001181574 SCV001346751 likely benign Cardiomyopathy 2019-04-26 criteria provided, single submitter clinical testing
Invitae RCV001466184 SCV001670184 likely benign Hypertrophic cardiomyopathy 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413692 SCV002714107 likely benign Cardiovascular phenotype 2020-06-29 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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