ClinVar Miner

Variants in gene combination LOC100507346, PTCH1 with conflicting interpretations reported as "benign and "pathogenic"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2281A>G (p.Ser761Gly) rs199476092

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