ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5661+9A>G

gnomAD frequency: 0.00005  dbSNP: rs373908250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456807 SCV000557916 likely benign Hypertrophic cardiomyopathy 14 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496816 SCV002805430 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535457 SCV004719628 likely benign MYH6-related disorder 2023-06-14 no assertion criteria provided 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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