ClinVar Miner

Submissions for variant NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)

dbSNP: rs1972986097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Exeter Molecular Genetics Laboratory RCV001251080 SCV001426668 likely pathogenic Primary dilated cardiomyopathy 2020-06-10 criteria provided, single submitter clinical testing This variant, NM_001142502.1:c.1610del, was found in compound heterozygosity with the likely pathogenic variant NM_001142502.1:c.2486_2487delinsTC.
OMIM RCV003329389 SCV004036027 pathogenic Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 2023-09-26 no assertion criteria provided literature only

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