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: chr7:92491474:A>AG
 
ClinVar:           chr7:92491474:A>AG 		NM_000466.3(PEX1):c.3235dup (p.Leu1079fs) Duplication
Likely pathogenic Heimler syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004574494
IndiGenomes: chr7:92494485:A>G
 
ClinVar:           chr7:92494485:A>G 		NM_000466.3(PEX1):c.2926+2T>C SNV
Pathogenic Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder type 1A
Zellweger spectrum disorders
Peroxisome biogenesis disorder
Condition: not provided
Heimler syndrome 1
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)		 Criteria Provided
Multiple Submitters
No Conflicts

8 SubmittersRCV000169385RCV001250202RCV001215871RCV002307427RCV002291587RCV003474911RCV005031695
IndiGenomes: chr7:92501998:G>C
 
ClinVar:           chr7:92501998:G>A 		NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter) SNV
Pathogenic/Likely pathogenic Heimler syndrome 1
Zellweger spectrum disorders		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476779RCV003594694
IndiGenomes: chr7:92503105:A>T
 
ClinVar:           chr7:92503105:A>T 		NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) SNV
Pathogenic Zellweger spectrum disorders Criteria Provided
Single Submitter

1 SubmittersRCV001901725
IndiGenomes: chr7:92517384:T>C
 
ClinVar:           chr7:92517384:CT>C 		NM_000466.3(PEX1):c.1131del (p.Asp378fs) Deletion
Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Condition: not provided
Zellweger spectrum disorders		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000317622RCV000725900RCV001855178
IndiGenomes: chr7:92522170:G>C
 
ClinVar:           chr7:92522170:G>A 		NM_000466.3(PEX1):c.205C>T (p.Gln69Ter) SNV
Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Heimler syndrome 1
Zellweger spectrum disorders		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002310139RCV005042801RCV003475336RCV003594184