ClinVar Miner

Submissions for variant NM_001711.6(BGN):c.357C>T (p.Leu119=)

gnomAD frequency: 0.00243  dbSNP: rs146322407
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886273 SCV001029773 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000886273 SCV001750767 benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454063 SCV002614121 benign Cardiovascular phenotype 2019-02-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330989 SCV004038927 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000886273 SCV004564007 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968051 SCV004782547 likely benign BGN-related disorder 2021-04-13 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000886273 SCV001807259 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000886273 SCV001932460 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000886273 SCV001968373 likely benign not provided no assertion criteria provided clinical testing

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