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: chr16:3740459:A>G
 
ClinVar:           chr16:3740459:A>G 		NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) SNV
Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome
Condition: not provided
CREBBP-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV001866053RCV001574440RCV003394150RCV004039429
IndiGenomes: chr16:3757373:C>A
 
ClinVar:           chr16:3757373:C>A 		NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) SNV
Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 SubmittersRCV000145738
IndiGenomes: chr16:3769212:G>C
 
ClinVar:           chr16:3769212:G>GCT 		NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs) Duplication
Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided

1 SubmittersRCV000856861
IndiGenomes: chr16:3773799:C>G
 
ClinVar:           chr16:3773799:C>T 		NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV000081038RCV002514427RCV003964929