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: chr12:101749181:G>A
 
ClinVar:           chr12:101749181:G>A 		NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) SNV
Pathogenic Pseudo-Hurler polydystrophy
Mucolipidosis type II
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

8 SubmittersRCV000031986RCV000032344RCV000670953RCV001193437RCV003488353
IndiGenomes: chr12:101757459:C>A
 
ClinVar:           chr12:101757459:C>CATATAAATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAA 		NM_024312.5(GNPTAB):c.3250-10_3335+112dup Duplication
Likely pathogenic Mucolipidosis type II
Pseudo-Hurler polydystrophy		 Criteria Provided
Single Submitter

1 SubmittersRCV000449557
IndiGenomes: chr12:101761271:A>G
 
ClinVar:           chr12:101761271:A>C 		NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter) SNV
Pathogenic Mucolipidosis type II
Pseudo-Hurler polydystrophy		 Criteria Provided
Single Submitter

1 SubmittersRCV001067360