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: chr8:89943297:G>C
 
ClinVar:           chr8:89943297:G>C 		NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications

6 SubmittersRCV000575176RCV000636782RCV001584370
IndiGenomes: chr8:89953565:T>C
 
ClinVar:           chr8:89953565:T>TA 		NM_002485.5(NBN):c.1523dup (p.Ser509fs) Duplication
Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
Gastric cancer
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001870904RCV003164199RCV003475133
IndiGenomes: chr8:89964487:G>A
 
ClinVar:           chr8:89964487:AG>A 		NM_002485.5(NBN):c.917del (p.Pro306fs) Deletion
Pathogenic Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000569950RCV000705860
IndiGenomes: chr8:89971175:G>A
 
ClinVar:           chr8:89971175:G>A 		NM_002485.5(NBN):c.700C>T (p.Gln234Ter) SNV
Pathogenic Microcephaly, normal intelligence and immunodeficiency Criteria Provided
Single Submitter

1 SubmittersRCV003618236