ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)

gnomAD frequency: 0.00004  dbSNP: rs375007425
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263851 SCV000372368 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318985 SCV000372369 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373599 SCV000372370 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000318985 SCV001664693 likely benign Hypertrophic cardiomyopathy 2023-12-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525475 SCV001735600 likely benign Cardiomyopathy 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298366 SCV004001246 likely benign Cardiovascular phenotype 2023-03-18 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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