ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.858C>T (p.Gly286=)

gnomAD frequency: 0.00004  dbSNP: rs151318437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433508 SCV000531103 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861607 SCV002250005 likely benign Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2023-06-25 criteria provided, single submitter clinical testing

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