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: chr5:148114490:G>T
 
ClinVar:           chr5:148114490:G>T 		NM_006846.4(SPINK5):c.2015+1G>T SNV
Likely pathogenic Ichthyosis linearis circumflexa Criteria Provided
Single Submitter

1 SubmittersRCV003763524
IndiGenomes: chr5:148123905:C>T
 
ClinVar:           chr5:148123905:C>T 		NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter) SNV
Pathogenic Ichthyosis linearis circumflexa
Netherton syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003763906RCV005036507