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: chr16:23603664:A>G
 
ClinVar:           chr16:23603664:A>G
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) SNV
Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications

8 SubmittersRCV000114623RCV000481742RCV000574823RCV005016389

IndiGenomes: chr16:23629208:A>AAT
 
ClinVar:           chr16:23629208:TA>T
NM_024675.4(PALB2):c.2582del (p.Glu860_Leu861insTer) Deletion
Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002426070

IndiGenomes: chr16:23629212:C>A
 
ClinVar:           chr16:23629212:C>A
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter) SNV
Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002958045RCV003367916

IndiGenomes: chr16:23629214:G>T
 
ClinVar:           chr16:23629214:G>T
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) SNV
Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000410429RCV000454290

IndiGenomes: chr16:23634949:T>A
 
ClinVar:           chr16:23634949:T>C
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) SNV
Conflicting classifications of pathogenicity Breast carcinoma
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

6 SubmittersRCV000626962RCV000815815RCV001356890RCV003478331RCV001012327

IndiGenomes: chr16:23635696:T>C
 
ClinVar:           chr16:23635696:T>C
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications

4 SubmittersRCV000575140RCV001030183RCV003607310