ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9609C>T (p.Tyr3203=)

dbSNP: rs1160444335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019549 SCV001180921 likely benign Hereditary cancer-predisposing syndrome 2017-10-30 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.
CeGaT Center for Human Genetics Tuebingen RCV003393784 SCV004133001 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing BRCA2: BP4, BP7
Invitae RCV003645139 SCV004506617 likely benign Hereditary breast ovarian cancer syndrome 2023-11-07 criteria provided, single submitter clinical testing

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