ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.501C>T (p.Pro167=)

gnomAD frequency: 0.00005  dbSNP: rs759336254
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002117054 SCV002397187 likely benign Dilated Cardiomyopathy, Recessive 2023-12-12 criteria provided, single submitter clinical testing

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