ClinVar Miner

Submissions for variant NM_001711.6(BGN):c.310G>A (p.Glu104Lys)

gnomAD frequency: 0.00160  dbSNP: rs150272427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000961850 SCV001108906 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320175 SCV002607886 benign Cardiovascular phenotype 2019-04-17 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 RCV003323768 SCV004029333 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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