ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) (rs80116829)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115818 SCV000185251 likely benign Hereditary cancer-predisposing syndrome 2017-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Color RCV000115818 SCV000910663 benign Hereditary cancer-predisposing syndrome 2015-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000205150 SCV000488990 uncertain significance Breast-ovarian cancer, familial 4 2016-07-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586998 SCV000231658 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000212963 SCV000149727 likely benign not specified 2018-02-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000586998 SCV000698108 benign not provided 2016-02-15 criteria provided, single submitter clinical testing
Invitae RCV000205150 SCV000262323 benign Breast-ovarian cancer, familial 4 2017-12-29 criteria provided, single submitter clinical testing
Mendelics RCV000709438 SCV000839181 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212963 SCV000602162 uncertain significance not specified 2017-02-14 criteria provided, single submitter clinical testing

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