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: chr15:48411089:C>A
 
ClinVar:           chr15:48411089:C>CT 		NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) Duplication
Pathogenic Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000664029RCV003767943
IndiGenomes: chr15:48415602:C>A
 
ClinVar:           chr15:48415602:GC>G 		NM_000138.5(FBN1):c.7985del (p.Gly2662fs) Deletion
Pathogenic Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005218172RCV005559922
IndiGenomes: chr15:48420650:T>TTGA
 
ClinVar:           chr15:48420650:TAGCCATGCATCTTGAGAGTGAGGAAAAGTTACTTGCCAACACACTGGTTCCACTGGTAGTGCTGGAGGTAGCCCTGGGGG>AGCTA 		NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT Indel
Likely pathogenic Marfan syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002074483
IndiGenomes: chr15:48421579:G>C
 
ClinVar:           chr15:48421579:TG>T 		NM_000138.5(FBN1):c.7678del (p.Gln2560fs) Deletion
Likely pathogenic Marfan syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000029779
IndiGenomes: chr15:48444642:A>G
 
ClinVar:           chr15:48444642:A>G 		NM_000138.5(FBN1):c.5936T>C (p.Leu1979Pro) SNV
Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003806186RCV004759309
IndiGenomes: chr15:48445406:C>T
 
ClinVar:           chr15:48445406:TC>T 		NM_000138.5(FBN1):c.5887del (p.Glu1963fs) Deletion
Pathogenic Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Single Submitter

1 SubmittersRCV005219997
IndiGenomes: chr15:48467949:G>A
 
ClinVar:           chr15:48467949:G>A 		NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val) SNV
Conflicting classifications of pathogenicity Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002273581RCV003774871