ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3785_3787del (p.Ser1262del) (rs1555587043)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570980 SCV000665826 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000662704 SCV000785451 uncertain significance Breast-ovarian cancer, familial 1 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV001064551 SCV001229461 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-17 criteria provided, single submitter clinical testing This variant, c.3785_3787del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.Ser1262del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 481434). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000570980 SCV001359092 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-06 criteria provided, single submitter clinical testing

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