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: chr1:197090004:G>A
 
ClinVar:           chr1:197090004:G>A 		NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) SNV
Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts

6 SubmittersRCV000145241RCV000255897RCV004955288
IndiGenomes: chr1:197102122:G>GCAGT
 
ClinVar:           chr1:197102122:G>GCAGT 		NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) Duplication
Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

9 SubmittersRCV000145177RCV000790789
IndiGenomes: chr1:197104187:A>C
 
ClinVar:           chr1:197104187:A>N 		NM_018136.5(ASPM):c.5064T>N (p.Thr1688=) SNV
Pathogenic not specified Criteria Provided
Single Submitter

1 SubmittersRCV003488816