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: chr2:227246017:G>A
 
ClinVar:           chr2:227246017:G>A 		NM_000091.5(COL4A3):c.387+1G>A SNV
Pathogenic Hereditary hearing loss and deafness No Assertion Criteria Provided

1 SubmittersRCV001003416
IndiGenomes: chr2:227297714:C>T
 
ClinVar:           chr2:227297714:C>T 		NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003857504RCV005030332
IndiGenomes: chr2:227298698:T>C
 
ClinVar:           chr2:227298698:CT>C 		NM_000091.5(COL4A3):c.3768del (p.Gly1257fs) Deletion
Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003143645RCV005616611
IndiGenomes: chr2:227307696:T>C
 
ClinVar:           chr2:227307696:T>C 		NM_000091.5(COL4A3):c.4253-14T>C SNV
Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000339994RCV002057675