ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University: Collection method of the submission from Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235

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