ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5601G>A (p.Gln1867=)

gnomAD frequency: 0.00062  dbSNP: rs148984154
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246492 SCV000319591 likely benign Cardiovascular phenotype 2015-04-08 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.
GeneDx RCV001697730 SCV000531900 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Invitae RCV000647083 SCV000768870 benign Hypertrophic cardiomyopathy 14 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542943 SCV004795750 likely benign MYH6-related disorder 2022-12-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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