ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2329A>G (p.Met777Val)

gnomAD frequency: 0.00219  dbSNP: rs181186746
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000546382 SCV000659660 likely benign Dilated Cardiomyopathy, Recessive 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711193 SCV005262866 likely benign not provided criteria provided, single submitter not provided

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