ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5232G>A (p.Glu1744=)

gnomAD frequency: 0.00001  dbSNP: rs1386717355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002082119 SCV002424646 likely benign Hypertrophic cardiomyopathy 14 2024-07-08 criteria provided, single submitter clinical testing

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