ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1704A>G (p.Gly568=)

gnomAD frequency: 0.00001  dbSNP: rs1057520238
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712356 SCV000512247 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562108 SCV000660795 likely benign Hereditary cancer-predisposing syndrome 2016-07-13 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.
Color Diagnostics, LLC DBA Color Health RCV000562108 SCV000688150 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000437519 SCV000918613 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000934844 SCV001080577 likely benign Familial cancer of breast 2024-01-24 criteria provided, single submitter clinical testing

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