Submissions for variant NM_007294.4(BRCA1):c.1803C>T (p.His601=)

gnomAD frequency: 0.00001  dbSNP: rs1057523373

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000422983	SCV000531703	likely benign	not specified	2016-09-08	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.
Invitae	RCV000861844	SCV001002254	likely benign	Hereditary breast ovarian cancer syndrome	2023-11-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001013238	SCV001173797	likely benign	Hereditary cancer-predisposing syndrome	2019-10-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV003897919	SCV004712547	likely benign	BRCA1-related condition	2023-11-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).