ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3784_3795del (p.Ala1262_Glu1265del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596037 SCV005091033 likely pathogenic Hypertrophic cardiomyopathy 4 2023-10-05 criteria provided, single submitter clinical testing PM1, PM2, PM4, PP4 - Low frequency in gnomAD population databases. Multiple affeted individuals in the family with the same variant.

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