ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.399-10A>G

gnomAD frequency: 0.00015  dbSNP: rs199979457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217342 SCV000272303 uncertain significance not specified 2016-03-23 criteria provided, single submitter clinical testing The c.399-10A>G variant in PDLIM3 has not been previously reported in individual s with cardiomyopathy, but has been identified in 0.1% (10/9632) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs199979457). This variant is located in the 3' splice region. Computat ional tools do not suggest an impact to splicing. However, this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the c.399-10A>G variant is uncertain.
GeneDx RCV001705203 SCV000523829 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000629185 SCV000750101 benign Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2025-01-23 criteria provided, single submitter clinical testing

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