ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Human Genetics Bochum, Ruhr University Bochum and "likely pathogenic" from Myriad Genetics, Inc.

Minimum review status of the submission from Human Genetics Bochum, Ruhr University Bochum: Collection method of the submission from Human Genetics Bochum, Ruhr University Bochum:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437

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