ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1884G>T (p.Val628=)

gnomAD frequency: 0.00001  dbSNP: rs376073436
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 RCV003757209 SCV001131111 likely benign Dilated Cardiomyopathy, Recessive 2023-10-24 criteria provided, single submitter clinical testing

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