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 Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Carcinoma of esophagus
Squamous cell lung carcinoma
Neoplasm of the large intestine
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Glioblastoma
Breast neoplasm
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Neoplasm of brain
Li-Fraumeni syndrome
Brainstem glioma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

6 SubmittersRCV000423812RCV000424026RCV000429727RCV000432131RCV000434737RCV000423368RCV000442028RCV000440628RCV000430321RCV000419385RCV000419630RCV000436286RCV000436638RCV000424710RCV000425385RCV000428977RCV000524926RCV000442755RCV000436088RCV000440402RCV000442833RCV000492090RCV002289540