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: chr21:46119852:T>C
 
ClinVar:           chr21:46119852:T>C 		NM_001849.4(COL6A2):c.1332+2T>C SNV
Pathogenic Bethlem myopathy 1A Criteria Provided
Single Submitter

1 SubmittersRCV001918252
IndiGenomes: chr21:46122931:A>C
 
ClinVar:           chr21:46122931:A>AG 		NM_001849.4(COL6A2):c.1666dup (p.Glu556fs) Duplication
Likely pathogenic Ullrich congenital muscular dystrophy 1B Criteria Provided
Single Submitter

1 SubmittersRCV005234917
IndiGenomes: chr21:46125853:C>T
 
ClinVar:           chr21:46125853:CG>A 		NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs) Indel
Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV000479621
IndiGenomes: chr21:46132386:G>GC
 
ClinVar:           chr21:46132386:G>C 		NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) SNV
Conflicting classifications of pathogenicity Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000254951RCV000560338RCV002227464