ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3327A>G (p.Lys1109=)

gnomAD frequency: 0.00001  dbSNP: rs755818414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272055 SCV000342025 uncertain significance not provided 2016-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090378 SCV005815662 likely benign Hypertrophic cardiomyopathy 14 2024-06-11 criteria provided, single submitter clinical testing

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