ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1116C>G (p.Pro372=)

gnomAD frequency: 0.00002  dbSNP: rs567266704
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002179858 SCV002348420 likely benign Dilated Cardiomyopathy, Recessive 2021-06-07 criteria provided, single submitter clinical testing

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