ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.942-17C>T

gnomAD frequency: 0.00002  dbSNP: rs937970088
Minimum review status: Collection method:
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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 RCV002082100 SCV002427494 likely benign Dilated Cardiomyopathy, Recessive 2021-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711833 SCV005262832 likely benign not provided criteria provided, single submitter not provided

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