ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) (rs80356902)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085614 SCV000075639 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-14 criteria provided, single submitter clinical testing
Counsyl RCV000077500 SCV000488059 uncertain significance Breast-ovarian cancer, familial 1 2015-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000510032 SCV000607922 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-26 criteria provided, single submitter clinical testing The p.P633S variant (also known as c.1897C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 1897. The proline at codon 633 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV000510032 SCV000682999 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077500 SCV000109299 benign Breast-ovarian cancer, familial 1 2012-06-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077500 SCV000144238 uncertain significance Breast-ovarian cancer, familial 1 2001-10-29 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656639 SCV000778766 uncertain significance not provided 2018-02-26 no assertion criteria provided clinical testing

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