ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1092G>A (p.Ser364=)

gnomAD frequency: 0.00004  dbSNP: rs770053185
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 RCV000655479 SCV000777409 likely benign Dilated Cardiomyopathy, Recessive 2022-11-01 criteria provided, single submitter clinical testing

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