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: chr13:51935005:C>T
 
ClinVar:           chr13:51935005:C>CCTCT 		NM_000053.4(ATP7B):c.4145_4148dup (p.Tyr1384fs) Microsatellite
Pathogenic Wilson disease Criteria Provided
Single Submitter

1 SubmittersRCV003503296
IndiGenomes: chr13:51937663:AC>A
 
ClinVar:           chr13:51937663:A>C 		NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) SNV
Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

10 SubmittersRCV000541103RCV001507826RCV002350175
IndiGenomes: chr13:51941191:C>G
 
ClinVar:           chr13:51941191:C>G 		NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) SNV
Pathogenic/Likely pathogenic Wilson disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

10 SubmittersRCV000761257RCV002286787
IndiGenomes: chr13:51944170:C>T
 
ClinVar:           chr13:51944170:C>T 		NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) SNV
Pathogenic Wilson disease
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts

16 SubmittersRCV000395391RCV000506750RCV001558379RCV002321983
IndiGenomes: chr13:51949700:C>G
 
ClinVar:           chr13:51949700:C>T 		NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) SNV
Pathogenic Wilson disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

14 SubmittersRCV000004060RCV001091638
IndiGenomes: chr13:51974379:G>A
 
ClinVar:           chr13:51974379:TG>T 		NM_000053.4(ATP7B):c.841del (p.Gln281fs) Deletion
Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003464962