ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.146-8A>G (rs201079501)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123369 SCV000166692 benign Fanconi anemia, complementation group O 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000127688 SCV000171267 benign not specified 2013-11-01 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.
Counsyl RCV000123369 SCV000489803 uncertain significance Fanconi anemia, complementation group O 2016-06-09 criteria provided, single submitter clinical testing
Counsyl RCV000409786 SCV000489804 uncertain significance Breast-ovarian cancer, familial 3 2016-06-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000127688 SCV000602135 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Color RCV000579930 SCV000686327 benign Hereditary cancer-predisposing syndrome 2015-01-15 criteria provided, single submitter clinical testing
Counsyl RCV000662404 SCV000784823 benign Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2017-01-05 criteria provided, single submitter clinical testing
Mendelics RCV000123369 SCV001140711 likely benign Fanconi anemia, complementation group O 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000409786 SCV001285752 likely benign Breast-ovarian cancer, familial 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000123369 SCV001285753 benign Fanconi anemia, complementation group O 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
True Health Diagnostics RCV000579930 SCV000788198 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000127688 SCV001365245 likely benign not specified 2014-11-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport.

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