ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3666C>T (p.Ser1222=)

gnomAD frequency: 0.00003  dbSNP: rs397516191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035862 SCV000059513 likely benign not specified 2014-03-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Preventiongenetics, part of Exact Sciences RCV000035862 SCV000303224 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001360435 SCV001556351 likely benign Hypertrophic cardiomyopathy 2023-12-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003531918 SCV004356833 likely benign Cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing

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