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: chr1:156875009:G>A
 
ClinVar:           chr1:156875009:G>A 		NM_002529.4(NTRK1):c.1354+1G>A SNV
Pathogenic Hereditary insensitivity to pain with anhidrosis Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001784762
IndiGenomes: chr1:156875621:C>A
 
ClinVar:           chr1:156875621:C>A 		NM_002529.4(NTRK1):c.1456C>A (p.Leu486Ile) SNV
Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002591919RCV002591920
IndiGenomes: chr1:156880071:G>T
 
ClinVar:           chr1:156880071:G>A 		NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) SNV
Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis
Premature ovarian failure
not specified		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000631320RCV001270189RCV004525991