ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4164C>T (p.Leu1388=)

gnomAD frequency: 0.00004  dbSNP: rs201379347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000886692 SCV001788115 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799005 SCV002043193 likely benign Cardiomyopathy 2021-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065508 SCV002393651 likely benign Hypertrophic cardiomyopathy 14 2024-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307665 SCV004001610 likely benign Cardiovascular phenotype 2023-05-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV000886692 SCV005211366 likely benign not provided criteria provided, single submitter not provided

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