ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.122C>T (p.Pro41Leu) (rs786201716)

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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 RCV000164148 SCV000214764 likely benign Hereditary cancer-predisposing syndrome 2019-11-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000464038 SCV000549518 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-15 criteria provided, single submitter clinical testing
GeneDx RCV001711442 SCV000730488 benign not provided 2020-09-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21120943, 25556971, 25348012, 27527004, 25801821, 26841698, 17333343, 30199306)
Color Health, Inc RCV000164148 SCV000911389 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-10 criteria provided, single submitter clinical testing
Mendelics RCV000988983 SCV001138944 benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing

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