Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr9:95445261:C>CCTGATCTTAAAGAAAAAGCATTCAGTCTTTAAATAA
 
ClinVar:           chr9:95445261:C>T 		NM_000264.5(PTCH1):c.*1132G>A SNV
Conflicting classifications of pathogenicity Holoprosencephaly 7
Gorlin syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001169000RCV001168999RCV003425975
IndiGenomes: chr9:95447203:G>T
 
ClinVar:           chr9:95447203:G>T 		NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys) SNV
Conflicting classifications of pathogenicity Gorlin syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000686744RCV004659163
IndiGenomes: chr9:95447440:G>C
 
ClinVar:           chr9:95447440:G>T 		NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) SNV
Conflicting classifications of pathogenicity Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000792438RCV002360912RCV003478488
IndiGenomes: chr9:95449918:T>A
 
ClinVar:           chr9:95449918:T>G 		NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu) SNV
Conflicting classifications of pathogenicity Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001945176RCV004809697RCV002334882
IndiGenomes: chr9:95485755:T>C
 
ClinVar:           chr9:95485755:T>C 		NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) SNV
Conflicting classifications of pathogenicity Gorlin syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001351025RCV001023615
IndiGenomes: chr9:95508291:G>C
 
ClinVar:           chr9:95508291:G>A 		NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu) SNV
Conflicting classifications of pathogenicity Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000690903RCV002369856RCV002469261