ClinVar Miner

Variants with conflicting interpretations "likely pathogenic, low penetrance" and "pathogenic"

Submission 1 (likely pathogenic, low penetrance) minimum review status: Submission 1 (likely pathogenic, low penetrance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 4

HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.4986+3G>C rs80358023

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