ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.492G>T (p.Pro164=)

gnomAD frequency: 0.00015  dbSNP: rs368407147
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619249 SCV000736188 likely benign Cardiovascular phenotype 2017-12-16 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.
Invitae RCV001487020 SCV001691503 likely benign Myofibrillar myopathy 4 2023-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001584432 SCV001811467 likely benign not provided 2020-03-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330833 SCV004038176 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965299 SCV004777522 likely benign LDB3-related disorder 2023-01-04 criteria provided, single submitter 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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