Submissions for variant NM_058216.3(RAD51C):c.87T>C (p.Ser29=)

dbSNP: rs786203249

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166476	SCV000217274	likely benign	Hereditary cancer-predisposing syndrome	2014-10-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199492	SCV000253646	likely benign	Fanconi anemia complementation group O	2023-12-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333563	SCV000404315	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 3	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000199492	SCV000404316	uncertain significance	Fanconi anemia complementation group O	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001704218	SCV000518245	likely benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21990120)
Color Diagnostics, LLC DBA Color Health	RCV000166476	SCV000691278	likely benign	Hereditary cancer-predisposing syndrome	2017-07-21	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166476	SCV002530025	likely benign	Hereditary cancer-predisposing syndrome	2021-05-06	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV004539559	SCV004768951	likely benign	RAD51C-related disorder	2023-11-21	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).
CeGaT Center for Human Genetics Tuebingen	RCV001704218	SCV004811125	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	RAD51C: BP4, BP7
Leiden Open Variation Database	RCV000431471	SCV001365241	likely benign	not specified	2012-01-29	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Ian Campbell.