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: chr9:108912397:G>A
 
ClinVar:           chr9:108912397:G>GTCCC 		NM_003640.5(ELP1):c.1052_1055dup (p.Asp352fs) Duplication
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002785712
IndiGenomes: chr9:108917575:G>A
 
ClinVar:           chr9:108917575:TG>T 		NM_003640.5(ELP1):c.836del (p.Thr279fs) Deletion
Pathogenic not specified Criteria Provided
Single Submitter

1 SubmittersRCV004066548
IndiGenomes: chr9:108919330:C>T
 
ClinVar:           chr9:108919330:C>T 		NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) SNV
Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001381430RCV002282535
IndiGenomes: chr9:108927396:G>A
 
ClinVar:           chr9:108927396:G>A 		NM_003640.5(ELP1):c.361C>T (p.Gln121Ter) SNV
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV003575313
IndiGenomes: chr9:108929922:C>T
 
ClinVar:           chr9:108929922:C>A 		NM_003640.5(ELP1):c.151-1G>T SNV
Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV000674659