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: chr5:90629303:C>T
 
ClinVar:           chr5:90629303:C>T 		NM_032119.4(ADGRV1):c.1603C>T (p.Arg535Ter) SNV
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002701346
IndiGenomes: chr5:90644753:G>A
 
ClinVar:           chr5:90644753:TGTATCATGGGTGGTTAGTCCAGACTTTACACAAGATGTATTTCCTGTACAAGGGACTGTTGTCTTTGGAGATCAGGAATTTTCAAAAAATATCACCATTTACTCCCTTCCAGATGAGGTAAATATTGCATATAACTTTCTGCCTTACTTGTTGTAGTTGATCAATAATTATTTTTTATTAAATAATTAAACATCTG>T 		NM_032119.4(ADGRV1):c.2785_2898+82del Deletion
Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV001963658
IndiGenomes: chr5:90675288:C>A
 
ClinVar:           chr5:90675288:C>T 		NM_032119.4(ADGRV1):c.5156C>T (p.Ala1719Val) SNV
Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV001053302
IndiGenomes: chr5:90690887:G>A
 
ClinVar:           chr5:90690887:G>A 		NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp) SNV
Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV001769936
IndiGenomes: chr5:90697074:A>G
 
ClinVar:           chr5:90697074:A>G 		NM_032119.4(ADGRV1):c.8083A>G (p.Ile2695Val) SNV
Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002807807RCV003679144
IndiGenomes: chr5:90706284:C>A
 
ClinVar:           chr5:90706284:C>T 		NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter) SNV
Pathogenic Rare genetic deafness
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000825556RCV001237241
IndiGenomes: chr5:90724960:C>T
 
ClinVar:           chr5:90724960:C>T 		NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) SNV
Pathogenic/Likely pathogenic Rare genetic deafness
Retinal dystrophy
Condition: not provided
Usher syndrome type 2C		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000602394RCV001073335RCV001382658RCV002221563
IndiGenomes: chr5:90788285:C>G
 
ClinVar:           chr5:90788285:C>T 		NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe) SNV
Conflicting classifications of pathogenicity Usher syndrome type 2C
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001155817RCV003698845
IndiGenomes: chr5:90855814:A>G
 
ClinVar:           chr5:90855814:CAT>C 		NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) Deletion
Pathogenic Condition: not provided
Usher syndrome type 2C
Usher syndrome type 2C
Febrile seizures, familial, 4		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000599234RCV000987544RCV005034183