ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2424G>A (p.Pro808=)

gnomAD frequency: 0.00002  dbSNP: rs368725345
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 RCV000874773 SCV001016999 likely benign Dilated Cardiomyopathy, Recessive 2024-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711346 SCV005262877 likely benign not provided criteria provided, single submitter not provided

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