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: chr18:46489036:G>C
 
ClinVar:           chr18:46489036:CG>C 		NM_001384474.1(LOXHD1):c.5985del (p.Asp1995fs) Deletion
Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77 No Assertion Criteria Provided

1 SubmittersRCV005614065
IndiGenomes: chr18:46529184:C>G
 
ClinVar:           chr18:46529184:C>T 		NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) SNV
Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000370435RCV000599692RCV002521151RCV002523039
IndiGenomes: chr18:46534452:C>T
 
ClinVar:           chr18:46534452:C>G 		NM_001384474.1(LOXHD1):c.4096-1G>C SNV
Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77 No Assertion Criteria Provided

1 SubmittersRCV000670482
IndiGenomes: chr18:46569441:C>T
 
ClinVar:           chr18:46569441:C>T 		NM_001384474.1(LOXHD1):c.2244+1G>A SNV
Likely pathogenic Condition: not provided
Autosomal recessive nonsyndromic hearing loss 77		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002050177RCV005014693
IndiGenomes: chr18:46601432:C>T
 
ClinVar:           chr18:46601432:AC>A 		NM_001384474.1(LOXHD1):c.919del (p.Val307fs) Deletion
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV001898212