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: chr5:13716680:C>A
 
ClinVar:           chr5:13716680:C>T 		NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter) SNV
Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV001947450
IndiGenomes: chr5:13758869:C>T
 
ClinVar:           chr5:13758869:C>T 		NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys) SNV
Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002852256RCV004763469
IndiGenomes: chr5:13762809:G>C
 
ClinVar:           chr5:13762809:G>A 		NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) SNV
Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000862440RCV001153066
IndiGenomes: chr5:13766185:G>A
 
ClinVar:           chr5:13766185:G>A 		NM_001369.3(DNAH5):c.9898-6C>T SNV
Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000594365RCV003767360
IndiGenomes: chr5:13768979:T>G
 
ClinVar:           chr5:13768979:T>G 		NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala) SNV
Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002637783RCV005623504
IndiGenomes: chr5:13829647:A>G
 
ClinVar:           chr5:13829647:A>G 		NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro) SNV
Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003651646RCV004577045
IndiGenomes: chr5:13839481:C>A
 
ClinVar:           chr5:13839481:AC>A 		NM_001369.3(DNAH5):c.5757del (p.Gln1919fs) Deletion
Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV001255234
IndiGenomes: chr5:13841131:C>T
 
ClinVar:           chr5:13841131:C>T 		NM_001369.3(DNAH5):c.5485-1G>A SNV
Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005142469
IndiGenomes: chr5:13859555:G>A
 
ClinVar:           chr5:13859555:G>GA 		NM_001369.3(DNAH5):c.4846dup (p.Ser1616fs) Duplication
Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV002307137
IndiGenomes: chr5:13862642:G>A
 
ClinVar:           chr5:13862642:CG>C 		NM_001369.3(DNAH5):c.4702del (p.Arg1568fs) Deletion
Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000629337
IndiGenomes: chr5:13901346:G>T
 
ClinVar:           chr5:13901346:G>A 		NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) SNV
Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV000707154RCV002282343