ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2199G>A (p.Ser733=)

gnomAD frequency: 0.00011  dbSNP: rs373219875
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498819 SCV001703572 likely benign Dilated Cardiomyopathy, Recessive 2025-01-17 criteria provided, single submitter clinical testing

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