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: chr1:215650702:C>A
 
ClinVar:           chr1:215650702:C>CATGGAACG 		NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) Duplication
Pathogenic Condition: not provided
Usher syndrome type 2A
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV001090613RCV002290591RCV004813727
IndiGenomes: chr1:215674696:G>A
 
ClinVar:           chr1:215674696:G>T 		NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter) SNV
Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 39		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001386343RCV004570962
IndiGenomes: chr1:215675056:C>A
 
ClinVar:           chr1:215675056:C>T 		NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) SNV
Pathogenic Usher syndrome type 2
Retinitis pigmentosa 39		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001199583RCV003467566
IndiGenomes: chr1:215759702:T>C
 
ClinVar:           chr1:215759702:T>C 		NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly) SNV
Conflicting classifications of pathogenicity Condition: not provided
Usher syndrome type 2A		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000728054RCV002280784
IndiGenomes: chr1:215888818:A>G
 
ClinVar:           chr1:215888818:GA>G 		NM_206933.4(USH2A):c.7831del (p.Ser2611fs) Deletion
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV001247303
IndiGenomes: chr1:215965413:A>ATAT
 
ClinVar:           chr1:215965413:A>AT 		NM_206933.4(USH2A):c.7023dup (p.Ser2342fs) Duplication
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV001069391
IndiGenomes: chr1:216089077:C>T
 
ClinVar:           chr1:216089077:C>T 		NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) SNV
Pathogenic/Likely pathogenic Usher syndrome type 2A
Retinitis pigmentosa 39
Retinal dystrophy
Condition: not provided
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

7 SubmittersRCV000671982RCV001074119RCV001868259RCV003453338RCV003453339RCV003389478
IndiGenomes: chr1:216246664:C>G
 
ClinVar:           chr1:216246664:TCC>T 		NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs) Deletion
Likely pathogenic Usher syndrome type 2A Criteria Provided
Single Submitter

1 SubmittersRCV002310584
IndiGenomes: chr1:216292212:T>TCTCCCCAG
 
ClinVar:           chr1:216292212:CT>C 		NM_206933.4(USH2A):c.1803del (p.Gly602fs) Deletion
Pathogenic Usher syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000596173
IndiGenomes: chr1:216421963:G>A
 
ClinVar:           chr1:216421963:TG>T 		NM_206933.4(USH2A):c.374del (p.Ala125fs) Deletion
Likely pathogenic Retinitis pigmentosa 39 Criteria Provided
Single Submitter

1 SubmittersRCV003466513