ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.30C>T (p.Ile10=)

gnomAD frequency: 0.00009  dbSNP: rs780010080
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 RCV002172008 SCV002331134 likely benign Dilated Cardiomyopathy, Recessive 2022-05-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711743 SCV005262788 likely benign not provided criteria provided, single submitter not provided

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