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: chr4:15478791:GC>G
 
ClinVar:           chr4:15478791:G>A 		NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000327916RCV002059272
IndiGenomes: chr4:15527458:C>T
 
ClinVar:           chr4:15527458:C>T 		NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=) SNV
Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002974839RCV005028066
IndiGenomes: chr4:15574173:T>A
 
ClinVar:           chr4:15574173:T>A 		NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu) SNV
Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000728616RCV003768178
IndiGenomes: chr4:15601288:G>A
 
ClinVar:           chr4:15601288:G>C 		NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His) SNV
Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000482125RCV003330716