ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Spanish ATM Cancer Susceptibility Variant Interpretation Working Group and "likely benign" from Sema4, Sema4

Minimum review status of the submission from Spanish ATM Cancer Susceptibility Variant Interpretation Working Group: Collection method of the submission from Spanish ATM Cancer Susceptibility Variant Interpretation Working Group:
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.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038

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