ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1611C>T (p.Arg537=) rs145690756
NM_001083602.2(PTCH1):c.1656C>T (p.Cys552=) rs62637628
NM_001083602.2(PTCH1):c.1806C>T (p.Tyr602=) rs151216961
NM_001083602.2(PTCH1):c.1975C>T (p.Pro659Ser) rs149258400
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2001A>G (p.Ser667=) rs2227970
NM_001083602.2(PTCH1):c.2024C>T (p.Ala675Val) rs2227971
NM_001083602.2(PTCH1):c.2106C>T (p.Thr702=) rs1805156
NM_001083602.2(PTCH1):c.2362+7C>T rs75576651
NM_001083602.2(PTCH1):c.2362+8G>A rs201541845

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