ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.678T>C (p.Ala226=)

dbSNP: rs1595089480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868857 SCV001010236 likely benign Hypertrophic cardiomyopathy 2022-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886447 SCV004703041 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing MYH7: PM2:Supporting, BP4, BP7

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