ClinVar Miner

Variants in gene combination RAD51D, RAD51L3-RFFL with conflicting interpretations reported as "risk factor and "pathogenic"

Submission 1 (risk factor) minimum review status: Submission 1 (risk factor) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232

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