Variant Identifiers	ClinVar Name	Variant Type	Clinical Significance	Phenotype Condition	Review Status	Variation/condition record
Indigenome VS ClinVar IDs	Relevant information available in ClinVar
IndiGenomes: chr7:117536648:G>T ClinVar: chr7:117536648:G>T	NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)	SNV	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	2 SubmittersRCV002282791
IndiGenomes: chr7:117540243:C>A ClinVar: chr7:117540243:C>T	NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	SNV	Pathogenic	Cystic fibrosis CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 not specified Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	15 SubmittersRCV000007614 RCV001009472 RCV001269654 RCV003473038 RCV000506655 RCV005042006
IndiGenomes: chr7:117540251:T>TC ClinVar: chr7:117540251:T>C	NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	SNV	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	12 SubmittersRCV000056338 RCV000724655 RCV002496707 RCV001004248 RCV003473441
IndiGenomes: chr7:117540270:G>T ClinVar: chr7:117540270:G>C	NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	SNV	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Practice Guideline	21 SubmittersRCV000007530 RCV001004251 RCV001831520 RCV002504761 RCV003473002 RCV001530124
IndiGenomes: chr7:117592251:A>G ClinVar: chr7:117592251:GA>G	NM_000492.4(CFTR):c.2089del (p.Arg697fs)	Deletion	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	4 SubmittersRCV000757807
IndiGenomes: chr7:117610591:C>A ClinVar: chr7:117610591:C>A	NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)	SNV	Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	3 SubmittersRCV000665519
IndiGenomes: chr7:117627570:G>C ClinVar: chr7:117627570:G>A	NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)	SNV	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation not specified	Criteria Provided Conflicting Classifications	9 SubmittersRCV000594547 RCV001245034 RCV001834866 RCV002491175 RCV003994036
IndiGenomes: chr7:117665565:G>A ClinVar: chr7:117665565:G>A	NM_000492.4(CFTR):c.4242+1G>A	SNV	Pathogenic	Cystic fibrosis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder	Reviewed By Expert Panel	9 SubmittersRCV000576317 RCV002504944 RCV001826684