ClinVar Miner

Submissions for variant NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs)

dbSNP: rs1973093514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics and Bioinformatics Laboratory, Pirogov Russian National Research Medical University RCV001258324 SCV001337694 pathogenic Primary dilated cardiomyopathy; Orofacial cleft 2020-06-16 criteria provided, single submitter clinical testing
Exeter Molecular Genetics Laboratory RCV001251081 SCV001426669 likely pathogenic Primary dilated cardiomyopathy 2020-06-10 criteria provided, single submitter clinical testing This variant was found to be homozygous.
OMIM RCV003329390 SCV004036028 pathogenic Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 2023-09-26 no assertion criteria provided literature only

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