ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.324C>T (p.Gly108=)

gnomAD frequency: 0.00001  dbSNP: rs758132417
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467507 SCV000561568 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000612974 SCV000725359 likely benign not specified 2017-11-30 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.
Color Diagnostics, LLC DBA Color Health RCV000774920 SCV000908963 likely benign Hereditary cancer-predisposing syndrome 2018-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774920 SCV002609972 likely benign Hereditary cancer-predisposing syndrome 2020-09-29 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.

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