ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2550C>T (p.Asn850=)

gnomAD frequency: 0.00001  dbSNP: rs1387090431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179603 SCV001344307 likely benign Cardiomyopathy 2019-06-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006580 SCV004839237 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004006580 SCV005811568 likely benign Hypertrophic cardiomyopathy 2025-01-27 criteria provided, single submitter clinical testing

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