ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.804C>T (p.Asn268=) (rs771076131)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466906 SCV000560222 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567273 SCV000660969 likely benign Hereditary cancer-predisposing syndrome 2015-01-20 criteria provided, single submitter clinical testing
Color RCV000567273 SCV000683360 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000607407 SCV000699303 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000607407 SCV000730558 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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