ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2076-6A>G

gnomAD frequency: 0.00001  dbSNP: rs571394304
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 RCV001461249 SCV001665141 likely benign Dilated Cardiomyopathy, Recessive 2022-08-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711461 SCV005262844 likely benign not provided criteria provided, single submitter not provided

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