ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.346-10C>T

gnomAD frequency: 0.00005  dbSNP: rs779972784
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475224 SCV000561569 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506745 SCV000602157 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580944 SCV000686446 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000506745 SCV001867684 benign not provided 2015-08-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580944 SCV002534800 likely benign Hereditary cancer-predisposing syndrome 2021-03-27 criteria provided, single submitter curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492068 SCV004239998 uncertain significance Breast and/or ovarian cancer 2023-06-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000475224 SCV005898272 benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-12-13 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
PreventionGenetics, part of Exact Sciences RCV003960101 SCV004773727 likely benign RAD51D-related disorder 2019-04-05 no assertion criteria provided 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).

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