ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2571C>T (p.Ser857=)

gnomAD frequency: 0.00023  dbSNP: rs72647153
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951808 SCV001098246 likely benign Dilated Cardiomyopathy, Recessive 2024-12-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711451 SCV005255793 likely benign not provided criteria provided, single submitter not provided

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