ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1752G>A (p.Ser584=)

gnomAD frequency: 0.00007  dbSNP: rs141219063
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
Invitae RCV000696377 SCV000824936 likely benign Dilated Cardiomyopathy, Recessive 2024-01-29 criteria provided, single submitter clinical testing

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