ClinVar Miner

Submissions for variant NM_006663.4(PPP1R13L):c.1219C>T (p.Gln407Ter)

gnomAD frequency: 0.00001  dbSNP: rs1290915929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Exeter Molecular Genetics Laboratory RCV001251084 SCV001426672 likely pathogenic Primary dilated cardiomyopathy 2020-06-10 criteria provided, single submitter clinical testing This variant, NM_001142502.1:c.1219C>T, was found in compound heterozygosity with the likely pathogenic variant NM_001142502.1:c.1537del.

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