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: chr17:7675134:T>C
 
ClinVar:           chr17:7675134:ATGGCGCGGACGCGGG>A 		NM_000546.6(TP53):c.464_478del (p.Thr155_Ala159del) Deletion
Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002018764
IndiGenomes: chr17:7675995:G>T
 
ClinVar:           chr17:7675995:G>C 		NM_000546.6(TP53):c.374C>G (p.Thr125Arg) SNV
Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts

8 SubmittersRCV000492090RCV000524926RCV002289540RCV004719815RCV004668962