ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.282T>A (p.Arg94=)

gnomAD frequency: 0.00001  dbSNP: rs1029663243
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002096160 SCV002400800 likely benign Dilated Cardiomyopathy, Recessive 2023-10-24 criteria provided, single submitter clinical testing

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