ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2433C>T (p.Thr811=)

gnomAD frequency: 0.00002  dbSNP: rs772926237
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 RCV001419329 SCV001621580 likely benign Dilated Cardiomyopathy, Recessive 2023-09-25 criteria provided, single submitter clinical testing

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