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: chr17:47945558:G>A
 
ClinVar:           chr17:47945558:G>A 		NM_018129.4(PNPO):c.364-1G>A SNV
Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000006897
IndiGenomes: chr17:47946669:C>A
 
ClinVar:           chr17:47946669:C>T 		NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) SNV
Pathogenic/Likely pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures
PNPO-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

7 SubmittersRCV000188498RCV000850584RCV004537581