ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1812C>T (p.Asn604=)

gnomAD frequency: 0.00014  dbSNP: rs370851992
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000876829 SCV001019453 likely benign Dilated Cardiomyopathy, Recessive 2024-01-11 criteria provided, single submitter clinical testing

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