ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1242C>T (p.Ile414=)

gnomAD frequency: 0.04763  dbSNP: rs7517033
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560773 SCV000659641 benign Dilated Cardiomyopathy, Recessive 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001662610 SCV001873781 benign not provided 2021-02-18 criteria provided, single submitter clinical testing

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