ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2568A>G (p.Glu856=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004987331 SCV005451691 likely benign Cardiovascular phenotype 2024-10-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005107573 SCV005825626 likely benign Hypertrophic cardiomyopathy 14 2024-06-20 criteria provided, single submitter clinical testing

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