ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.750G>A (p.Glu250=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002393756 SCV002675087 likely benign Cardiovascular phenotype 2020-11-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776403 SCV004617649 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973388 SCV004799200 likely benign PRDM5-related disorder 2021-07-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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