Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	SNV Germline	Chr7:117559548	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Reviewed By Expert Panel	CA325518	rs_77101217	18 SubmittersRCV000007526 RCV002496294 RCV001004456 RCV002288473 RCV000727628 RCV003472999 RCV001835623
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	SNV Germline	Chr7:117530953	Pathogenic; drug response	Cystic fibrosis Condition: not provided ivacaftor response - Efficacy Cystic fibrosis CFTR-related disorder CFTR-related disorder not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA284835	rs_113993958	17 SubmittersRCV000007527 RCV000058930 RCV000660769 RCV001009392 RCV001835624 RCV000780153 RCV001004427 RCV002247259 RCV003473000 RCV005042001
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	SNV Germline	Chr7:117530975	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided ivacaftor response - Efficacy Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Obstructive azoospermia Bronchiectasis with or without elevated sweat chloride 1 Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	Practice Guideline	CA221026	rs_78655421	38 SubmittersRCV000007528 RCV000007529 RCV000078997 RCV000417156 RCV000826137 RCV000763151 RCV001009478 RCV001642199 RCV003473001 RCV004018585
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	SNV Germline	Chr7:117540270	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	CA340630	rs_77932196	21 SubmittersRCV000007530 RCV001004251 RCV001831520 RCV002504761 RCV003473002 RCV001530124
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	SNV Germline	Chr7:117548795	Pathogenic	Cystic fibrosis ivacaftor response - Efficacy Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340631	rs_74551128	24 SubmittersRCV000007531 RCV000660853 RCV001530091 RCV000763569 RCV001826427 RCV001004446 RCV003473003
NM_000492.4(CFTR):c.1585-1G>A	SNV Germline	Chr7:117587738	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis 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	Practice Guideline	CA340632	rs_76713772	28 SubmittersRCV000007532 RCV000224919 RCV001027893 RCV001004462 RCV002496295 RCV003473004
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	SNV Germline	Chr7:117587833	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis 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	Practice Guideline	CA340633	rs_80055610	20 SubmittersRCV000007533 RCV000224789 RCV001831521 RCV000780134 RCV001004262 RCV002504762 RCV003473005
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)	SNV Germline	Chr7:117590360	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis	Reviewed By Expert Panel	CA325520	rs_121909006	14 SubmittersRCV000007534 RCV001009533 RCV002254258 RCV004566688 RCV004734501 RCV001004266 RCV005042002
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	SNV Germline	Chr7:117587778	Pathogenic	Cystic fibrosis Condition: not provided Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA284836	rs_113993959	38 SubmittersRCV000007535 RCV000058931 RCV000119041 RCV001004463 RCV000763572 RCV001826428 RCV003473006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	SNV Germline	Chr7:117587800	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis CFTR-related disorder Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325521	rs_121908755	23 SubmittersRCV000007536 RCV000211264 RCV000727629 RCV001004465 RCV002247260 RCV001831522 RCV002496296 RCV003473007
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)	SNV Germline	Chr7:117587800	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA325522	rs_121908755	1 SubmittersRCV000007537
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	SNV Germline	Chr7:117587801	Pathogenic; drug response	ivacaftor response - Efficacy Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA254107	rs_121909005	20 SubmittersRCV000211129 RCV000056350 RCV000508411 RCV001004466 RCV001826538 RCV000763573 RCV003473249
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	SNV Germline	Chr7:117590394	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Cystic fibrosis CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325523	rs_121908758	11 SubmittersRCV000007539 RCV001004269 RCV001009367 RCV001831523 RCV002254259 RCV003473008 RCV002490333
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	SNV Germline	Chr7:117587806	Pathogenic	Cystic fibrosis Hereditary pancreatitis ivacaftor response - Efficacy Condition: not provided Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340634	rs_75527207	28 SubmittersRCV000007540 RCV000119040 RCV000211289 RCV000301838 RCV000763574 RCV001004467 RCV001831524 RCV003473009
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	SNV Germline	Chr7:117587811	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Practice Guideline	CA340635	rs_74597325	30 SubmittersRCV000007542 RCV000763575 RCV000506601 RCV000781237 RCV001004260 RCV003137499 RCV001831525
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	SNV Germline	Chr7:117587829	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Reviewed By Expert Panel	CA340637	rs_75549581	17 SubmittersRCV000007543 RCV000521321 RCV001826429 RCV002476941 RCV003473010 RCV001004261
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)	SNV Germline	Chr7:117642484	Pathogenic	Cystic fibrosis not specified Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325525	rs_76649725	12 SubmittersRCV000007545 RCV000781247 RCV001810834 RCV001831527 RCV003473012
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	SNV Germline	Chr7:117559594	Conflicting classifications of pathogenicity	Cystic fibrosis not specified CFTR-related disorder Condition: not provided Infertility disorder Obstructive azoospermia Hereditary pancreatitis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Conflicting Classifications	CA146695	rs_74571530	19 SubmittersRCV000007546 RCV000078978 RCV001009496 RCV001281707 RCV001327947 RCV001642200 RCV002255993 RCV005229769
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)	SNV Germline	Chr7:117594977	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis CFTR-related disorder	Reviewed By Expert Panel	CA325527	rs_267606722	9 SubmittersRCV000007547 RCV001004480 RCV004566689 RCV005042003 RCV001826430
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	SNV Germline	Chr7:117603612	Pathogenic/Likely pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA325529	rs_121909008	8 SubmittersRCV000007548 RCV001004485 RCV004566690 RCV005031407
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	SNV Germline	Chr7:117642566	Pathogenic	Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis not specified CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340638	rs_77010898	34 SubmittersRCV000271658 RCV000763161 RCV000007549 RCV001004509 RCV000780159 RCV002228015 RCV002255994 RCV003473013
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	SNV Germline	Chr7:117559587	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA254110	rs_1800091	14 SubmittersRCV000007551 RCV000245320 RCV000759754 RCV001282755
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)	SNV Germline	Chr7:117548804	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA325530	rs_121909009	2 SubmittersRCV000007552
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter)	SNV Germline	Chr7:117652915	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA325531	rs_121909010	1 SubmittersRCV000007553
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	SNV Germline	Chr7:117652877	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Spermatogenic failure, Y-linked, 2 CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Practice Guideline	CA340641	rs_80034486	41 SubmittersRCV000007556 RCV000224445 RCV001004513 RCV002287325 RCV001831530 RCV002255995 RCV003473015 RCV005042004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	SNV Germline	Chr7:117627537	Pathogenic	Cystic fibrosis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis	Practice Guideline	CA340642	rs_74767530	25 SubmittersRCV000007557 RCV000780138 RCV001004500 RCV001831531 RCV003473016 RCV004720229 RCV000508142 RCV002504763
NM_000492.4(CFTR):c.3717+4A>G	SNV Germline	Chr7:117627774	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA325534	rs_387906362	5 SubmittersRCV000007558
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	SNV Germline	Chr7:117540230	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Practice Guideline	CA340644	rs_121909011	30 SubmittersRCV000007559 RCV000224060 RCV001826431 RCV003473017 RCV000763567 RCV001000033 RCV001004246 RCV005357089
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	SNV Germline	Chr7:117594990	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided	Reviewed By Expert Panel	CA340645	rs_121909012	12 SubmittersRCV000007561 RCV001831532 RCV003473019 RCV001004481 RCV002476942
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	SNV Germline	Chr7:117587805	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Hereditary pancreatitis	Reviewed By Expert Panel	CA325536	rs_121909013	13 SubmittersRCV000007562 RCV000211256 RCV000224595 RCV003473020 RCV001831533 RCV002247261
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	SNV Germline	Chr7:117509123	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340647	rs_75961395	25 SubmittersRCV000007563 RCV000224170 RCV001004234 RCV001831534 RCV002490334 RCV003473021
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)	SNV Germline	Chr7:117627525	Pathogenic	Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325537	rs_79850223	21 SubmittersRCV000579152 RCV000007564 RCV001004499 RCV000763158 RCV001831535 RCV003473022
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)	SNV Germline	Chr7:117559629	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA325545	rs_77646904	13 SubmittersRCV000007570 RCV001004460 RCV000781233 RCV003473023 RCV001528232 RCV001826436
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)	SNV Germline	Chr7:117559643	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325546	rs_121908754	7 SubmittersRCV000007571 RCV001831537 RCV003466827
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	SNV Germline	Chr7:117642593	Pathogenic/Likely pathogenic	Cystic fibrosis not specified CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA325548	rs_121909015	7 SubmittersRCV000007572 RCV000780123 RCV002228016 RCV003473024
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)	SNV Germline	Chr7:117540163	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Obstructive azoospermia	Reviewed By Expert Panel	CA325549	rs_121909016	8 SubmittersRCV000007573 RCV003473025 RCV001642201
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	SNV Germline	Chr7:117559546	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA325551	rs_121909017	13 SubmittersRCV000007575 RCV001004455 RCV003473027 RCV000763571 RCV001810836 RCV004734502
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	SNV Germline	Chr7:117587833	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325552	rs_80055610	8 SubmittersRCV000007576 RCV003466828
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter)	SNV Germline	Chr7:117592646	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA325553	rs_121909018	2 SubmittersRCV000007577
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	SNV Germline	Chr7:117611638	Pathogenic	Cystic fibrosis not specified Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325555	rs_121909019	14 SubmittersRCV000007578 RCV000506781 RCV000592350 RCV001004299 RCV001831538 RCV002496297 RCV003473028
NM_000492.4(CFTR):c.3873+1G>A	SNV Germline	Chr7:117642594	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Condition: not provided 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	CA325556	rs_143570767	10 SubmittersRCV000007580 RCV001004510 RCV001831540 RCV003736536 RCV002496298
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	SNV Germline	Chr7:117611637	Pathogenic	Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325558	rs_78194216	24 SubmittersRCV000723839 RCV001004298 RCV000007582 RCV001001063 RCV002496299 RCV001831541 RCV003473029
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	SNV Germline	Chr7:117642528	Conflicting classifications of pathogenicity	Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis not specified Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis	Criteria Provided Conflicting Classifications	CA254112	rs_11971167	19 SubmittersRCV000007584 RCV000046985 RCV000176372 RCV000480239 RCV000587433 RCV001158873 RCV005031410
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	SNV Germline	Chr7:117590400	Conflicting classifications of pathogenicity	Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided not specified Lung disease, non-specific Chronic sinusitis CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Conflicting Classifications	CA182838	rs_1800098	24 SubmittersRCV000007585 RCV000029486 RCV000078981 RCV000155472 RCV000584175 RCV000582695 RCV001009484 RCV005031411
NM_000492.3(CFTR):c.3718-2477C>T	SNV Germline	Chr7:117639961	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis CFTR-related disorder Cystic fibrosis CFTR-related disorder Hereditary pancreatitis not specified	Practice Guideline	CA249893	rs_75039782	29 SubmittersRCV000007586 RCV000727872 RCV000763159 RCV001009390 RCV001826438 RCV002257359 RCV000507372
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met)	SNV Germline	Chr7:117642568	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA325559	rs_77902683	3 SubmittersRCV000007587 RCV001831542
NM_000492.4(CFTR):c.1766+1G>A	SNV Germline	Chr7:117590440	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340648	rs_121908748	21 SubmittersRCV000007588 RCV002496300 RCV000985681 RCV001004273 RCV001027908 RCV003473031
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)	SNV Germline	Chr7:117540305	Conflicting classifications of pathogenicity	not specified Cystic fibrosis Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA353709	rs_76879328	3 SubmittersRCV001293471 RCV002415404 RCV002247262
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	SNV Germline	Chr7:117540270	Pathogenic/Likely pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA325561	rs_77932196	7 SubmittersRCV000007591 RCV001004252 RCV003466829 RCV005031412
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter)	SNV Germline	Chr7:117592313	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA254113	rs_121909023	1 SubmittersRCV000007594
NM_000492.4(CFTR):c.2490+1G>A	SNV Germline	Chr7:117592658	Pathogenic	Cystic fibrosis CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis	Reviewed By Expert Panel	CA340649	rs_141158996	13 SubmittersRCV000007595 RCV001826439 RCV001509317 RCV005031413
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)	SNV Germline	Chr7:117627765	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA325566	rs_121908766	4 SubmittersRCV000007596
NM_000492.4(CFTR):c.3718-1G>A	SNV Germline	Chr7:117642437	Pathogenic	Cystic fibrosis CFTR-related disorder Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	CA325568	rs_387906369	7 SubmittersRCV000007597 RCV001831544 RCV003996079
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	SNV Germline	Chr7:117509040	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA325570	rs_121909025	7 SubmittersRCV000007599 RCV001826440
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)	SNV Germline	Chr7:117652905	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA340650	rs_121909026	9 SubmittersRCV000007600 RCV001826441 RCV003473032
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	SNV Germline	Chr7:117530899	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis CFTR-related disorder CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325572	rs_121908751	13 SubmittersRCV000007601 RCV001093484 RCV001009395 RCV001831545 RCV003473033
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	SNV Germline	Chr7:117540270	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis CFTR-related disorder CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA340652	rs_77932196	20 SubmittersRCV000007602 RCV000224726 RCV001009366 RCV001027909 RCV001004250 RCV003473034 RCV005042005
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)	SNV Germline	Chr7:117509140	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325573	rs_121908750	6 SubmittersRCV000007603 RCV001831546 RCV004566691
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser)	SNV Germline	Chr7:117642577	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA325574	rs_121909028	1 SubmittersRCV000007604
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	SNV Germline	Chr7:117530899	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325576	rs_121908751	12 SubmittersRCV000007606 RCV001004423 RCV001009515 RCV001826443 RCV003473036
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	SNV Germline	Chr7:117559509	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA221007	rs_79282516	9 SubmittersRCV000007607 RCV000790782 RCV001004453 RCV004566692
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	SNV Germline	Chr7:117535285	Pathogenic; drug response	Cystic fibrosis Condition: not provided Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis ivacaftor response - Efficacy Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA221035	rs_121908752	28 SubmittersRCV000007611 RCV000079011 RCV000763156 RCV000660772 RCV001004443 RCV001009388 RCV001831547 RCV003473037
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)	SNV Germline	Chr7:117642483	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Hereditary pancreatitis	Reviewed By Expert Panel	CA325580	rs_121909041	9 SubmittersRCV000007613 RCV001787320 RCV002247264
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	SNV Germline	Chr7:117540243	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	CA325581	rs_77409459	15 SubmittersRCV000007614 RCV001009472 RCV001269654 RCV003473038 RCV000506655 RCV005042006
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	SNV Germline	Chr7:117611707	Pathogenic	Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Reviewed By Expert Panel	CA340653	rs_78802634	16 SubmittersRCV000507617 RCV000763581 RCV000007615 RCV001004304 RCV003473039 RCV001027902
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)	SNV Germline	Chr7:117530951	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA325582	rs_121909031	5 SubmittersRCV000007618 RCV003473040
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	SNV Germline	Chr7:117540285	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325583	rs_121908753	18 SubmittersRCV000007619 RCV000660773 RCV000763568 RCV001004254 RCV000985669 RCV001826444 RCV003473041
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)	SNV Germline	Chr7:117587808	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325585	rs_76554633	10 SubmittersRCV000007622 RCV001826445 RCV003473042
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val)	SNV Germline	Chr7:117592110	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA325587	rs_121909033	1 SubmittersRCV000007623
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)	SNV Germline	Chr7:117592295	Pathogenic	Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325588	rs_75115087	11 SubmittersRCV000759034 RCV000007624 RCV001004470 RCV001826446 RCV003473043
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)	SNV Germline	Chr7:117603542	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis	Reviewed By Expert Panel	CA325590	rs_79633941	14 SubmittersRCV000007625 RCV000505859 RCV003473044 RCV001831549 RCV005042007
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)	SNV Germline	Chr7:117611635	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Reviewed By Expert Panel	CA325596	rs_121909036	10 SubmittersRCV000007629 RCV000311326 RCV001831550 RCV001004297
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)	SNV Germline	Chr7:117611653	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA325597	rs_121909037	1 SubmittersRCV000007630
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	SNV Germline	Chr7:117611695	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA325598	rs_79635528	6 SubmittersRCV000007631
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)	SNV Germline	Chr7:117611717	Pathogenic	not specified CFTR-related disorder Cystic fibrosis CFTR-related disorder Cystic fibrosis	Reviewed By Expert Panel	CA269811	rs_121908761	6 SubmittersRCV000780122 RCV001009514 RCV001831551 RCV000056380
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)	SNV Germline	Chr7:117627664	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA325599	rs_121908764	7 SubmittersRCV000007633 RCV001831552
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)	SNV Germline	Chr7:117627712	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA254115	rs_1800123	14 SubmittersRCV000007635 RCV000589624 RCV004528090 RCV003230350
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)	SNV Germline	Chr7:117627753	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325601	rs_75389940	16 SubmittersRCV000007636 RCV001269696 RCV001831553 RCV004566693
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)	SNV Germline	Chr7:117642466	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA325602	rs_121909040	6 SubmittersRCV000007637
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)	SNV Germline	Chr7:117642472	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325603	rs_74503330	16 SubmittersRCV000007638 RCV000211301 RCV000506301 RCV001826447 RCV003466832
NM_000492.4(CFTR):c.3907A>C (p.Asn1303His)	SNV Germline	Chr7:117652875	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA325604	rs_121909042	1 SubmittersRCV000007639
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	SNV Germline	Chr7:117667029	Pathogenic/Likely pathogenic	Sweat chloride elevation without cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Respiratory ciliopathies including non-CF bronchiectasis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118642	rs_121909043	10 SubmittersRCV000007644 RCV001004310 RCV000590108 RCV003473045 RCV001826450 RCV005031414 RCV005430922 RCV001781201
NM_000492.3(CFTR):c.-102A=	SNV Germline	Chr7:117479993	Pathogenic	Cystic fibrosis	No Assertion Criteria Provided		rs_1797973431	1 SubmittersRCV000007647
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	SNV Germline	Chr7:117610521	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified Pancreatitis CFTR-related disorder Infertility disorder Obstructive azoospermia Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Conflicting Classifications	CA090907	rs_1800111	29 SubmittersRCV000007650 RCV000007651 RCV000046745 RCV000078991 RCV000243402 RCV000583195 RCV001009470 RCV001327946 RCV001642202 RCV005031415
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)	SNV Germline	Chr7:117480113	Pathogenic	Cystic fibrosis Condition: not provided	Criteria Provided Single Submitter	CA325613	rs_121909045	2 SubmittersRCV000007657 RCV000278439
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	SNV Germline	Chr7:117664780	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA325616	rs_113857788	17 SubmittersRCV000007659 RCV000586028 RCV005031417 RCV001009487 RCV001375489
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	SNV Germline	Chr7:117535318	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA254120	rs_121909046	20 SubmittersRCV000007660 RCV000506350 RCV000586415 RCV001095295
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)	SNV Germline	Chr7:117642451	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327266	rs_267606723	2 SubmittersRCV000577733
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)	SNV Germline	Chr7:117590355	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325617	rs_121909047	11 SubmittersRCV000007662 RCV000759032 RCV001826451 RCV001004265 RCV003473050
NM_000492.4(CFTR):c.2988+1G>A	SNV Germline	Chr7:117606754	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA221018	rs_75096551	28 SubmittersRCV000007645 RCV000759761 RCV001027899 RCV000763580 RCV001004285 RCV003473046
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)	SNV Germline	Chr7:117540309	Conflicting classifications of pathogenicity	Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA353710	rs_75053309	2 SubmittersRCV002420286 RCV001293472
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	SNV Germline	Chr7:117540284	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA325686	rs_193922497	12 SubmittersRCV000029469 RCV000727191 RCV004532406 RCV005229828
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)	SNV Germline	Chr7:117504313	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA260211	rs_193922498	3 SubmittersRCV000029470
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)	SNV Germline	Chr7:117548796	Conflicting classifications of pathogenicity	not specified Condition: not provided Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA260214	rs_79074685	13 SubmittersRCV000245016 RCV000588680 RCV001085484 RCV001161865 RCV001588827 RCV002256002
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	SNV Germline	Chr7:117548798	Pathogenic	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Reviewed By Expert Panel	CA325689	rs_193922500	26 SubmittersRCV000029474 RCV000731635 RCV000763570 RCV001001125 RCV001004447 RCV001009542 RCV001331274 RCV003473123 RCV004734530
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	SNV Germline	Chr7:117559468	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis CFTR-related disorder Obstructive azoospermia	Reviewed By Expert Panel	CA342833	rs_121908805	20 SubmittersRCV000029475 RCV000724154 RCV001004451 RCV003473124 RCV005042089 RCV001826510 RCV001642234
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	SNV Germline	Chr7:117559471	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA342834	rs_139573311	12 SubmittersRCV000029476 RCV000724155 RCV001004452 RCV001831607 RCV002477011 RCV003473125
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	SNV Germline	Chr7:117480108	Pathogenic/Likely pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA325691	rs_193922501	17 SubmittersRCV000029477 RCV001004225 RCV000727666 RCV002284179 RCV003473126 RCV004734531 RCV005031456
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	SNV Germline	Chr7:117559629	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Hereditary pancreatitis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Conflicting Classifications	CA221008	rs_77646904	19 SubmittersRCV000046339 RCV000589201 RCV000855641 RCV001163392 RCV002247397 RCV005031457
NM_000492.4(CFTR):c.1584+12T>C	SNV Germline	Chr7:117559667	Conflicting classifications of pathogenicity	not specified Condition: not provided CFTR-related disorder Cystic fibrosis	Criteria Provided Conflicting Classifications	CA325693	rs_193922502	8 SubmittersRCV000250540 RCV000985676 RCV001163393 RCV001414754
NM_000492.4(CFTR):c.1585-8G>A	SNV Germline	Chr7:117587731	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA342836	rs_193922503	11 SubmittersRCV000029481 RCV000759756 RCV001826511 RCV003473127
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	SNV Germline	Chr7:117587827	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA325694	rs_193922504	10 SubmittersRCV000029483 RCV001811199 RCV003473128 RCV005031458
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	SNV Germline	Chr7:117590357	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary pancreatitis Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA240027	rs_1800097	14 SubmittersRCV000587283 RCV001526855 RCV002256003 RCV000029484 RCV001163395
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)	SNV Germline	Chr7:117590404	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA325696	rs_55928397	11 SubmittersRCV000029487 RCV001508586 RCV001420715 RCV003466875
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	SNV Germline	Chr7:117592032	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326704	rs_121908759	22 SubmittersRCV000046498 RCV000506455 RCV000763577 RCV001588828 RCV001004277 RCV002256004 RCV001009381 RCV003473129 RCV002228058
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	SNV Germline	Chr7:117592169	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Lung disease, non-specific Chronic sinusitis Condition: not provided CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA182840	rs_1800100	25 SubmittersRCV000029490 RCV000155473 RCV000515296 RCV000583839 RCV000582625 RCV000723382 RCV001009490 RCV002256005
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	SNV Germline	Chr7:117509093	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Hereditary pancreatitis Condition: not provided Lung disease, non-specific CFTR-related disorder Abnormality of the pancreas	Criteria Provided Conflicting Classifications	CA152327	rs_1800076	22 SubmittersRCV000029494 RCV000116686 RCV000119039 RCV000513754 RCV000582582 RCV001095213 RCV001249413
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	SNV Germline	Chr7:117592588	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Condition: not provided CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA260217	rs_1800103	19 SubmittersRCV000197986 RCV000313144 RCV000515401 RCV000725433 RCV001009483 RCV002257361
NM_000492.4(CFTR):c.2620-15C>G	SNV Germline	Chr7:117602811	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA260218	rs_139379077	15 SubmittersRCV000029499 RCV000244736 RCV000759758 RCV001158764 RCV002257362
NM_000492.4(CFTR):c.273+3A>C	SNV Germline	Chr7:117509145	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA325701	rs_74467662	7 SubmittersRCV000029501 RCV001004421 RCV003473133 RCV003482230
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)	SNV Germline	Chr7:117603642	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA260222	rs_193922509	1 SubmittersRCV000029503
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)	SNV Germline	Chr7:117603687	Conflicting classifications of pathogenicity	Congenital bilateral aplasia of vas deferens from CFTR mutation not specified Condition: not provided Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA260225	rs_193922511	8 SubmittersRCV000029505 RCV000506921 RCV000730038 RCV001378467 RCV002284180
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)	SNV Germline	Chr7:117603709	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA260229	rs_193922513	6 SubmittersRCV000029507 RCV001160120 RCV001175334
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)	SNV Germline	Chr7:117603772	Conflicting classifications of pathogenicity	Cystic fibrosis not specified CFTR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA179875	rs_1800109	18 SubmittersRCV000029508 RCV000152996 RCV001095179 RCV001529602
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	SNV Germline	Chr7:117606674	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA326964	rs_386134230	14 SubmittersRCV000046718 RCV001004490 RCV001781321 RCV002228059 RCV003473135 RCV005042091
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)	SNV Germline	Chr7:117606697	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA325702	rs_193922514	5 SubmittersRCV000029510 RCV003473136
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)	SNV Germline	Chr7:117606753	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA221019	rs_121908797	14 SubmittersRCV000029512 RCV000790775 RCV001004284 RCV001831609 RCV003473137
NM_000492.4(CFTR):c.2989-2A>T	SNV Germline	Chr7:117610517	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA325704	rs_193922515	3 SubmittersRCV000029513 RCV003466876
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	SNV Germline	Chr7:117610568	Conflicting classifications of pathogenicity	CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA260231	rs_193922516	9 SubmittersRCV001835638 RCV002482910 RCV001241203 RCV001811200
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	SNV Germline	Chr7:117610610	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA146697	rs_1800112	15 SubmittersRCV000029515 RCV000078993 RCV000224628 RCV001163494
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	SNV Germline	Chr7:117610625	Pathogenic/Likely pathogenic	Cystic fibrosis CFTR-related disorder Condition: not provided Cystic fibrosis 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 Hereditary pancreatitis Obstructive azoospermia Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA325705	rs_144055758	14 SubmittersRCV000029516 RCV001009474 RCV000591587 RCV001004290 RCV005042092 RCV001642235 RCV003473138
NM_000492.4(CFTR):c.3139+8A>G	SNV Germline	Chr7:117610677	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA260234	rs_193922517	6 SubmittersRCV000029518 RCV003114205 RCV004532408 RCV005406761
NM_000492.4(CFTR):c.3140-26A>G	SNV Germline	Chr7:117611555	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA342838	rs_76151804	23 SubmittersRCV000029519 RCV000724157 RCV001004294 RCV001009368 RCV003473139 RCV001831610 RCV002482911
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)	SNV Germline	Chr7:117627611	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA260235	rs_1800121	14 SubmittersRCV000029524 RCV000253655 RCV000726703 RCV001163787
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	SNV Germline	Chr7:117627758	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder Obstructive azoospermia Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA090908	rs_34911792	20 SubmittersRCV000029527 RCV000079000 RCV000755234 RCV001163789 RCV001642238 RCV001801912 RCV003333727
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)	SNV Germline	Chr7:117530995	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA260239	rs_193922519	1 SubmittersRCV000029528
NM_000492.4(CFTR):c.3717+5G>A	SNV Germline	Chr7:117627775	Pathogenic	Cystic fibrosis Cystic fibrosis 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 Hereditary pancreatitis CFTR-related disorder	Reviewed By Expert Panel	CA260242	rs_193922520	8 SubmittersRCV000029530 RCV001004503 RCV002496446 RCV004724756
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)	SNV Germline	Chr7:117664721	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA260246	rs_193922524	1 SubmittersRCV000029535
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	SNV Germline	Chr7:117664770	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy CFTR-related disorder Hereditary pancreatitis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325711	rs_193922525	11 SubmittersRCV000029536 RCV000211255 RCV001826515 RCV002247398 RCV002477013 RCV003473145
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)	SNV Germline	Chr7:117664780	Conflicting classifications of pathogenicity	not specified Condition: not provided Cystic fibrosis Hereditary pancreatitis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA260248	rs_113857788	8 SubmittersRCV000029537 RCV000757090 RCV000808411 RCV002256007 RCV004532409
NM_000492.4(CFTR):c.4242+2T>C	SNV Germline	Chr7:117665566	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA260252	rs_193922526	4 SubmittersRCV000029539
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)	SNV Germline	Chr7:117666945	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA260254	rs_193922528	1 SubmittersRCV000029541
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	SNV Germline	Chr7:117536629	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325712	rs_193922532	9 SubmittersRCV000029545 RCV001004239 RCV001831612 RCV003473146
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)	SNV Germline	Chr7:117536657	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Hereditary pancreatitis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA325714	rs_151073129	12 SubmittersRCV000029547 RCV000598331 RCV002257363 RCV004532410 RCV002477014 RCV002477015
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	SNV Germline	Chr7:117504290	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA325716	rs_1800073	19 SubmittersRCV000029548 RCV000251973 RCV000515170 RCV000723380 RCV001161749 RCV001801914 RCV003387730
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	SNV Germline	Chr7:117540188	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA325718	rs_144476686	16 SubmittersRCV000029549 RCV001526859 RCV000590210 RCV001801915 RCV001588829 RCV001165382 RCV003473147 RCV005042095
NM_000492.4(CFTR):c.489+1G>T	SNV Germline	Chr7:117531115	Pathogenic	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA344708	rs_78756941	29 SubmittersRCV000043565 RCV000657900 RCV000763152 RCV001027898 RCV001004431 RCV002288527 RCV003473246
NM_000492.4(CFTR):c.579+1G>T	SNV Germline	Chr7:117534366	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation not specified Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA344709	rs_77188391	15 SubmittersRCV000043566 RCV001004437 RCV000780140 RCV000723838 RCV001826530 RCV003473240
NM_000492.4(CFTR):c.2657+5G>A	SNV Germline	Chr7:117602868	Pathogenic	Cystic fibrosis Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Respiratory ciliopathies including non-CF bronchiectasis	Practice Guideline	CA344707	rs_80224560	33 SubmittersRCV000043564 RCV000487256 RCV000507493 RCV000763579 RCV001004484 RCV001009372 RCV001835639 RCV003473241 RCV002257369 RCV005416027
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	SNV Germline	Chr7:117611717	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Condition: not provided not specified Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA269813	rs_121908761	20 SubmittersRCV000056379 RCV000763157 RCV001004305 RCV001831621 RCV000522700 RCV000781257 RCV003473243
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	SNV Germline	Chr7:117509047	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328091	rs_77284892	16 SubmittersRCV000056355 RCV001528716 RCV001004229 RCV000763147 RCV001826532 RCV003473244
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	SNV Germline	Chr7:117587799	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy CFTR-related disorder Condition: not provided not specified Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA254108	rs_121908757	11 SubmittersRCV000043664 RCV000211346 RCV001826533 RCV003476914 RCV000781222 RCV002247407 RCV001004464 RCV003466883
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)	SNV Germline	Chr7:117530991	Pathogenic	Cystic fibrosis CFTR-related disorder Condition: not provided	Reviewed By Expert Panel	CA328118	rs_79660178	7 SubmittersRCV000056385 RCV001831622 RCV001529907
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	SNV Germline	Chr7:117531068	Conflicting classifications of pathogenicity	Cystic fibrosis not specified CFTR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA146708	rs_35516286	17 SubmittersRCV000047138 RCV000079009 RCV001095251 RCV001705619
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	SNV Germline	Chr7:117611743	Pathogenic	Cystic fibrosis not specified Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA221025	rs_36210737	17 SubmittersRCV000032712 RCV000781258 RCV000757078 RCV001004494 RCV001831623 RCV002496491 RCV003466886
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	SNV Germline	Chr7:117559655	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Cystic fibrosis Condition: not provided Pancreatitis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA132749	rs_1800095	21 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847 RCV005416110
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	SNV Germline	Chr7:117509092	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis	Reviewed By Expert Panel	CA328098	rs_121908749	19 SubmittersRCV000056362 RCV001831710 RCV003473290 RCV001004232 RCV001284476 RCV005031482
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)	SNV Germline	Chr7:117627640	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis CFTR-related disorder Condition: not provided	Reviewed By Expert Panel	CA328116	rs_121908763	10 SubmittersRCV000056383 RCV003473291 RCV002490585 RCV001831711 RCV004998133
NM_000492.4(CFTR):c.274-1G>A	SNV Germline	Chr7:117530898	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 CFTR-related disorder	Reviewed By Expert Panel	CA345313	rs_121908792	11 SubmittersRCV000056370 RCV000224434 RCV000763148 RCV001004422 RCV003473292 RCV001831712
NM_000492.4(CFTR):c.1680-1G>A	SNV Germline	Chr7:117590352	Pathogenic	Cystic fibrosis CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA328089	rs_121908794	15 SubmittersRCV000056352 RCV001826602 RCV000985679 RCV003473293 RCV001004264
NM_000492.4(CFTR):c.1766+5G>T	SNV Germline	Chr7:117590444	Pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326663	rs_121908796	17 SubmittersRCV001004274 RCV000046468 RCV003473294 RCV004537158 RCV001528994 RCV004795959
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	SNV Germline	Chr7:117530974	Pathogenic; drug response	Cystic fibrosis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Cystic fibrosis CFTR-related disorder ivacaftor response - Efficacy Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328115	rs_77834169	24 SubmittersRCV000056382 RCV000763150 RCV000727627 RCV001004428 RCV001009394 RCV001826603 RCV003227627 RCV003473295
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	SNV Germline	Chr7:117534318	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy 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 Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA328125	rs_80282562	16 SubmittersRCV000056394 RCV000211246 RCV000763153 RCV001004435 RCV000508034 RCV001831713 RCV003473296 RCV002247425
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)	SNV Germline	Chr7:117540218	Pathogenic	Cystic fibrosis Inborn genetic diseases Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA328133	rs_79031340	10 SubmittersRCV000056402 RCV000623802 RCV000760400 RCV000780126 RCV001004245 RCV001826604 RCV003473299 RCV005042122
NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro)	SNV Germline	Chr7:117540320	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326399	rs_78909279	1 SubmittersRCV004767035
NM_000492.4(CFTR):c.-812T>G	SNV Germline	Chr7:117479283	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA325803	rs_181008242	8 SubmittersRCV000043698 RCV000507401 RCV001281708
NM_000492.4(CFTR):c.-226G>T	SNV Germline	Chr7:117479869	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA325805	rs_73717525	7 SubmittersRCV000043700 RCV000727142
NM_000492.4(CFTR):c.*2G>A	SNV Germline	Chr7:117667110	Conflicting classifications of pathogenicity	Condition: not provided not specified Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA242756	rs_150914702	10 SubmittersRCV000176720 RCV001002168 RCV001409872 RCV004734602
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	SNV Germline	Chr7:117540231	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA326358	rs_397508137	19 SubmittersRCV000046192 RCV000587058 RCV001165384 RCV002281546 RCV003473439 RCV005364934 RCV005031485
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	SNV Germline	Chr7:117540231	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326360	rs_397508137	12 SubmittersRCV000577441 RCV001811317 RCV002281547 RCV004537221 RCV004566862
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	SNV Germline	Chr7:117540237	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA345302	rs_397508139	14 SubmittersRCV000056337 RCV000593715 RCV001826607 RCV001004247 RCV003473440
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	SNV Germline	Chr7:117540251	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	CA328077	rs_397508144	12 SubmittersRCV000056338 RCV000724655 RCV002496707 RCV001004248 RCV003473441
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)	SNV Germline	Chr7:117540267	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA326372	rs_397508146	4 SubmittersRCV000576945
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)	SNV Germline	Chr7:117540269	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326373	rs_397508147	8 SubmittersRCV000577686 RCV000729383 RCV000780155 RCV002247432
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	SNV Germline	Chr7:117540273	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326375	rs_142920240	13 SubmittersRCV000046210 RCV000781246 RCV000339107 RCV004537222
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	SNV Germline	Chr7:117540282	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA326377	rs_1800086	14 SubmittersRCV000046212 RCV000588868 RCV001158654 RCV002265581
NM_000492.4(CFTR):c.1057C>T (p.Gln353Ter)	SNV Germline	Chr7:117540287	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326379	rs_397508148	2 SubmittersRCV001009439
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)	SNV Unknown	Chr7:117540298	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA326384	rs_397508150	2 SubmittersRCV002284592 RCV003475329
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)	SNV Germline	Chr7:117540311	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326395	rs_397508154	5 SubmittersRCV001009436 RCV001831717
NM_000492.4(CFTR):c.1116+1G>A	SNV Germline	Chr7:117540347	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328079	rs_397508158	10 SubmittersRCV000056340 RCV001004255 RCV001027907 RCV003473444
NM_000492.4(CFTR):c.1116+1G>C	SNV Germline	Chr7:117540347	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326406	rs_397508158	2 SubmittersRCV000577091
NM_000492.4(CFTR):c.1117-5A>G	SNV Germline	Chr7:117542011	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326409	rs_397508161	2 SubmittersRCV001009374 RCV002284358
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	SNV Germline	Chr7:117542024	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326410	rs_73215912	10 SubmittersRCV000577124 RCV001192399 RCV005229866 RCV003473445
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)	SNV Germline	Chr7:117542034	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326415	rs_397508165	8 SubmittersRCV000665109 RCV001283961 RCV003466898
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	SNV Germline	Chr7:117504314	Pathogenic	Cystic fibrosis CFTR-related disorder not specified Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA345303	rs_397508168	10 SubmittersRCV000056342 RCV001831718 RCV000781224 RCV003473446 RCV004808568
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)	SNV Germline	Chr7:117542074	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326424	rs_397508170	7 SubmittersRCV000577118
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	SNV Germline	Chr7:117480105	Pathogenic	Cystic fibrosis not specified CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326431	rs_397508173	11 SubmittersRCV000046255 RCV000780154 RCV001027911 RCV003473447
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter)	SNV Germline	Chr7:117542101	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA328081	rs_397508174	3 SubmittersRCV000056343 RCV001831720
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)	SNV Germline	Chr7:117542102	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA328083	rs_397508175	5 SubmittersRCV000056344 RCV001831721
NM_000492.4(CFTR):c.1209+1G>A	SNV Germline	Chr7:117542109	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA328084	rs_397508176	6 SubmittersRCV000056345 RCV001831722
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)	SNV Germline	Chr7:117542108	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326433	rs_397508177	3 SubmittersRCV000577812
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)	SNV Germline	Chr7:117542108	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326435	rs_397508177	3 SubmittersRCV000577449
NM_000492.4(CFTR):c.1210-1G>C	SNV Germline	Chr7:117548640	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326437	rs_397508178	2 SubmittersRCV000576959
NM_000492.4(CFTR):c.1210-2A>C	SNV Germline	Chr7:117548639	Pathogenic	not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Cystic fibrosis	Reviewed By Expert Panel	CA326438	rs_397508179	8 SubmittersRCV001001372 RCV001004258 RCV002277135 RCV001826608 RCV001193108
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)	SNV Germline	Chr7:117548671	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA326443	rs_397508183	9 SubmittersRCV000046266 RCV001093486 RCV001831724
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	SNV Germline	Chr7:117548746	Conflicting classifications of pathogenicity	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA326449	rs_397508187	8 SubmittersRCV000046271 RCV003473448 RCV003476940
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)	SNV Germline	Chr7:117504330	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326451	rs_1800074	2 SubmittersRCV000577104
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)	SNV Germline	Chr7:117548753	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326452	rs_397508188	4 SubmittersRCV000577476 RCV005042127
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	SNV Germline	Chr7:117548758	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA175540	rs_147422190	23 SubmittersRCV000046274 RCV000078976 RCV000150335 RCV001004444 RCV001009469 RCV002256030 RCV003473449 RCV005031486
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)	SNV Germline	Chr7:117548797	Pathogenic/Likely pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326460	rs_397508195	4 SubmittersRCV000577746 RCV005031487
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)	SNV Germline	Chr7:117504336	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA326462	rs_151020603	5 SubmittersRCV000046286
NM_000492.4(CFTR):c.1392+1G>A	SNV Germline	Chr7:117548824	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326464	rs_397508197	4 SubmittersRCV001007592
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)	SNV Germline	Chr7:117548823	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA326465	rs_397508198	5 SubmittersRCV001009443 RCV001357911 RCV001197496
NM_000492.4(CFTR):c.1393-1G>A	SNV Germline	Chr7:117559463	Pathogenic	Cystic fibrosis not specified Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA345305	rs_397508200	15 SubmittersRCV000056347 RCV000506518 RCV000506225 RCV001004449 RCV001831726 RCV003473452 RCV005229867
NM_000492.4(CFTR):c.1393-2A>G	SNV Germline	Chr7:117559462	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326468	rs_397508201	7 SubmittersRCV000046291 RCV001826609
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)	SNV Germline	Chr7:117559468	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder CFTR-related disorder	Reviewed By Expert Panel	CA328085	rs_121908805	3 SubmittersRCV000056348 RCV001009519 RCV001826610
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	SNV Germline	Chr7:117559468	Conflicting classifications of pathogenicity	Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326469	rs_121908805	5 SubmittersRCV001192400 RCV002496708 RCV003473453 RCV002390195
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	SNV Germline	Chr7:117559470	Conflicting classifications of pathogenicity	CFTR-related disorder Condition: not provided Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326471	rs_1800089	14 SubmittersRCV004734603 RCV000588804 RCV000577709 RCV001824591 RCV003884342
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)	SNV Germline	Chr7:117559476	Pathogenic/Likely pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Multiple Submitters No Conflicts	CA326475	rs_397508203	5 SubmittersRCV000577569 RCV001009537 RCV002288549
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter)	SNV Germline	Chr7:117559506	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326482	rs_397508207	1 SubmittersRCV002394265
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	SNV Germline	Chr7:117559509	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA326484	rs_79282516	9 SubmittersRCV000577421 RCV001826611 RCV001753465
NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp)	SNV Germline	Chr7:117559510	Pathogenic/Likely pathogenic	Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326486	rs_397508208	3 SubmittersRCV003473455 RCV001507709 RCV004767041
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)	SNV Germline	Chr7:117559537	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA328087	rs_397508211	12 SubmittersRCV000056349 RCV001528800 RCV001831728 RCV003473456 RCV005042128
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg)	SNV Germline	Chr7:117559542	Pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Single Submitter	CA326494	rs_397508213	1 SubmittersRCV001009387
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)	SNV Germline	Chr7:117559549	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326498	rs_397508214	2 SubmittersRCV000577263
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)	SNV Germline	Chr7:117559558	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326501	rs_397508216	6 SubmittersRCV000576357 RCV001826612
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)	SNV Germline	Chr7:117504347	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326503	rs_397508217	2 SubmittersRCV000046319
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)	SNV Germline	Chr7:117504348	Conflicting classifications of pathogenicity	Cystic fibrosis not specified CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA326509	rs_397508220	7 SubmittersRCV000577356 RCV001194310 RCV001831729 RCV002490610
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)	SNV Germline	Chr7:117559572	Pathogenic/Likely 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 Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326510	rs_397508221	5 SubmittersRCV000577075 RCV005031488 RCV002281548
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)	SNV Germline	Chr7:117559576	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA326512	rs_397508222	3 SubmittersRCV000856672 RCV001283967
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)	SNV Germline	Chr7:117559576	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326514	rs_397508222	8 SubmittersRCV000577239 RCV003473457
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)	SNV Germline	Chr7:117559581	Pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA326517	rs_397508223	4 SubmittersRCV000757811 RCV001826613
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)	SNV Germline	Chr7:117559587	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326519	rs_1800091	8 SubmittersRCV001004457 RCV000577685 RCV001269698 RCV003473458
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	SNV Germline	Chr7:117559588	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA326521	rs_397508224	12 SubmittersRCV000046330 RCV000727671 RCV005031489
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)	SNV Germline	Chr7:117559588	Conflicting classifications of pathogenicity	Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA326523	rs_397508224	3 SubmittersRCV000577616 RCV003226178
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)	SNV Germline	Chr7:117559589	Conflicting classifications of pathogenicity	Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA326525	rs_1800092	5 SubmittersRCV000046332 RCV001844024
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	SNV Germline	Chr7:117559609	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326529	rs_397508225	7 SubmittersRCV001009541 RCV000577027 RCV004566863
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)	SNV Germline	Chr7:117559617	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA326530	rs_397508226	3 SubmittersRCV001756583 RCV002405289 RCV003331194
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)	SNV Germline	Chr7:117559644	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326532	rs_397508227	6 SubmittersRCV000046342 RCV001826614
NM_000492.4(CFTR):c.1585-9412A>G	SNV Germline	Chr7:117578327	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326536	rs_397508229	6 SubmittersRCV000577289
NM_000492.4(CFTR):c.1584+1G>A	SNV Germline	Chr7:117559656	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326537	rs_397508230	5 SubmittersRCV000576560 RCV001831730
NM_000492.4(CFTR):c.1584+1G>T	SNV Germline	Chr7:117559656	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326538	rs_397508230	1 SubmittersRCV001377419
NM_000492.4(CFTR):c.1584+2T>C	SNV Germline	Chr7:117559657	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA326539	rs_397508231	3 SubmittersRCV001009440 RCV004566864
NM_000492.4(CFTR):c.1585-2A>G	SNV Germline	Chr7:117587737	Pathogenic/Likely pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA326543	rs_397508233	6 SubmittersRCV000577663 RCV001835654
NM_000492.4(CFTR):c.164+12T>C	SNV Germline	Chr7:117504375	Conflicting classifications of pathogenicity	not specified Condition: not provided Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326561	rs_121908790	11 SubmittersRCV000855588 RCV000590024 RCV000577399 RCV004537223
NM_000492.4(CFTR):c.164+1G>A	SNV Germline	Chr7:117504364	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326562	rs_397508243	5 SubmittersRCV000046367 RCV001826615 RCV004566865
NM_000492.4(CFTR):c.164+1G>C	SNV Germline	Chr7:117504364	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA326563	rs_397508243	4 SubmittersRCV000577757 RCV003466899
NM_000492.4(CFTR):c.164+1G>T	SNV Germline	Chr7:117504364	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326564	rs_397508243	8 SubmittersRCV000576651 RCV003473459
NM_000492.4(CFTR):c.164+2T>C	SNV Germline	Chr7:117504365	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326565	rs_121908800	5 SubmittersRCV000577099 RCV001831731 RCV004795979
NM_000492.4(CFTR):c.164+9A>T	SNV Germline	Chr7:117504372	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation not specified CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326568	rs_397508245	6 SubmittersRCV000576924 RCV001588870 RCV001264463 RCV004537224
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)	SNV Germline	Chr7:117587802	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326572	rs_397508247	5 SubmittersRCV000046380 RCV001826616
NM_000492.4(CFTR):c.165-1G>A	SNV Germline	Chr7:117509033	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA326575	rs_397508249	9 SubmittersRCV000046382 RCV000280788 RCV001826617
NM_000492.4(CFTR):c.165-2A>G	SNV Germline	Chr7:117509032	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326576	rs_397508250	4 SubmittersRCV001009517 RCV002284359
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	SNV Germline	Chr7:117509035	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326588	rs_397508256	9 SubmittersRCV000046399 RCV000660826 RCV001004228 RCV001009396 RCV003480043 RCV003473461
NM_000492.4(CFTR):c.1680-877G>T	SNV Germline	Chr7:117589476	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326598	rs_397508261	10 SubmittersRCV000046407 RCV000759031 RCV004537225 RCV003473462
NM_000492.4(CFTR):c.1679+16T>C	SNV Germline	Chr7:117587849	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA326599	rs_397508262	4 SubmittersRCV000668354 RCV000781262 RCV001588871
NM_000492.4(CFTR):c.1679+18G>A	SNV Germline	Chr7:117587851	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation not specified	Criteria Provided Conflicting Classifications	CA326600	rs_369294289	5 SubmittersRCV000668835 RCV001588872 RCV005237477
NM_000492.4(CFTR):c.1679+1G>C	SNV Germline	Chr7:117587834	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326601	rs_397508263	4 SubmittersRCV000046411 RCV001826620
NM_000492.4(CFTR):c.1680-886A>G	SNV Germline	Chr7:117589467	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis CFTR-related disorder Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326604	rs_397508266	16 SubmittersRCV000046417 RCV000763576 RCV001027897 RCV000724668 RCV000781239 RCV001004263
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)	SNV Germline	Chr7:117590353	Pathogenic	Cystic fibrosis Condition: not provided	Reviewed By Expert Panel	CA326605	rs_397508267	9 SubmittersRCV000576677 RCV004700330
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)	SNV Germline	Chr7:117590360	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA326608	rs_121909006	3 SubmittersRCV000577631
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)	SNV Germline	Chr7:117590367	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA326611	rs_397508270	7 SubmittersRCV000576976 RCV001009513 RCV001588873 RCV001831733 RCV002469000
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)	SNV Germline	Chr7:117509038	Pathogenic/Likely pathogenic	Condition: not provided Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326615	rs_397508272	7 SubmittersRCV001269511 RCV000577294
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)	SNV Germline	Chr7:117509038	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA326617	rs_397508272	10 SubmittersRCV000577563 RCV004537226 RCV003473463 RCV003114230
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)	SNV Germline	Chr7:117590376	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA326618	rs_397508273	5 SubmittersRCV000046430 RCV004566867
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)	SNV Germline	Chr7:117590378	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA326623	rs_397508276	4 SubmittersRCV000577252 RCV000985680
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	SNV Germline	Chr7:117590378	Pathogenic	Cystic fibrosis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis	Reviewed By Expert Panel	CA326624	rs_397508276	14 SubmittersRCV000046434 RCV000780130 RCV001004268 RCV001269564 RCV001826622 RCV003473464 RCV005031491
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)	SNV Germline	Chr7:117590379	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326625	rs_397508277	2 SubmittersRCV000577599
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)	SNV Germline	Chr7:117590380	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326626	rs_397508278	2 SubmittersRCV000577826
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)	SNV Germline	Chr7:117509039	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder CFTR-related disorder	Reviewed By Expert Panel	CA326628	rs_397508279	7 SubmittersRCV000046437 RCV001009511 RCV001826623
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)	SNV Germline	Chr7:117590385	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326629	rs_397508280	6 SubmittersRCV000577164 RCV001835655
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)	SNV Germline	Chr7:117590387	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326631	rs_397508282	3 SubmittersRCV000577056
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)	SNV Germline	Chr7:117590393	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326632	rs_397508283	2 SubmittersRCV000577818
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn)	SNV Germline	Chr7:117509041	Likely pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Single Submitter	CA326636	rs_397508285	2 SubmittersRCV000577317 RCV005237478
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)	SNV Germline	Chr7:117590403	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA326638	rs_397508286	7 SubmittersRCV000577606 RCV001811321
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	SNV Germline	Chr7:117590418	Conflicting classifications of pathogenicity	Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA326653	rs_397508293	9 SubmittersRCV000576955 RCV000781252
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)	SNV Germline	Chr7:117590426	Pathogenic	Cystic fibrosis not specified Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA345306	rs_397508296	17 SubmittersRCV000056353 RCV000781242 RCV000724156 RCV001004271 RCV001831737 RCV003473466 RCV005031493
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)	SNV Germline	Chr7:117590436	Conflicting classifications of pathogenicity	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326657	rs_397508297	7 SubmittersRCV000577259 RCV004566868 RCV004528257
NM_000492.4(CFTR):c.1766+1G>C	SNV Germline	Chr7:117590440	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326659	rs_121908748	8 SubmittersRCV000046463 RCV001835656
NM_000492.4(CFTR):c.1766+1G>T	SNV Germline	Chr7:117590440	Pathogenic	Cystic fibrosis CFTR-related disorder Condition: not provided	Reviewed By Expert Panel	CA326660	rs_121908748	5 SubmittersRCV000046464 RCV001826625 RCV001090999
NM_000492.4(CFTR):c.1766+3A>C	SNV Germline	Chr7:117590442	Pathogenic/Likely pathogenic	CFTR-related disorder Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326661	rs_397508298	6 SubmittersRCV005606640 RCV000757829
NM_000492.4(CFTR):c.1766+3A>G	SNV Germline	Chr7:117590442	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Reviewed By Expert Panel	CA328090	rs_397508298	12 SubmittersRCV000056354 RCV000301070 RCV003466901 RCV002228155
NM_000492.4(CFTR):c.1766+5G>A	SNV Germline	Chr7:117590444	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326662	rs_121908796	2 SubmittersRCV000577703
NM_000492.4(CFTR):c.1766+73T>G	SNV Germline	Chr7:117590512	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326664	rs_397508299	4 SubmittersRCV000729354 RCV000577334
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)	SNV Germline	Chr7:117590439	Pathogenic/Likely pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA326665	rs_397508300	10 SubmittersRCV000757803 RCV001826626 RCV003473467 RCV004703200 RCV005042129
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)	SNV Germline	Chr7:117590439	Pathogenic/Likely pathogenic	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326669	rs_397508300	3 SubmittersRCV001004272 RCV000577310
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)	SNV Germline	Chr7:117509047	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326672	rs_77284892	4 SubmittersRCV000577024 RCV004566869
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)	SNV Germline	Chr7:117591959	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326674	rs_397508302	1 SubmittersRCV002284248
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)	SNV Germline	Chr7:117591968	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326681	rs_397508306	4 SubmittersRCV000577043 RCV001009373
NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr)	SNV Germline	Chr7:117591969	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326682	rs_397508307	2 SubmittersRCV000577395
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)	SNV Germline	Chr7:117591978	Pathogenic/Likely pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326688	rs_397508308	5 SubmittersRCV000665515 RCV001009540
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)	SNV Germline	Chr7:117591993	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder Condition: not provided not specified Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA326692	rs_397508310	13 SubmittersRCV000577469 RCV001009543 RCV001284132 RCV001001757 RCV003473468 RCV005042131
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)	SNV Germline	Chr7:117591993	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326694	rs_397508310	4 SubmittersRCV000507939 RCV000778818
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	SNV Germline	Chr7:117592004	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326697	rs_201978662	7 SubmittersRCV000577180 RCV003466902 RCV002228156 RCV005031494
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	SNV Germline	Chr7:117592008	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Multiple Submitters No Conflicts	CA326700	rs_201124247	15 SubmittersRCV000577786 RCV002227057 RCV001004275 RCV001009371 RCV003473469 RCV001831738 RCV005042132
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	SNV Germline	Chr7:117592020	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221010	rs_139468767	13 SubmittersRCV000046494 RCV000790746 RCV001004276 RCV002490611 RCV003473470 RCV004734604
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)	SNV Germline	Chr7:117592027	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326703	rs_397508315	4 SubmittersRCV000577374
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)	SNV Germline	Chr7:117592049	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA326706	rs_397508316	6 SubmittersRCV000577750
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)	SNV Germline	Chr7:117592049	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	CA326707	rs_397508316	8 SubmittersRCV000577206 RCV000730837 RCV001831739 RCV005031495
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)	SNV Germline	Chr7:117592076	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326713	rs_397508320	2 SubmittersRCV000577807
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)	SNV Germline	Chr7:117592133	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326719	rs_397508323	4 SubmittersRCV000577648 RCV001831740
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)	SNV Germline	Chr7:117592157	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA326725	rs_397508327	8 SubmittersRCV000577577 RCV001781372 RCV001831742
NM_000492.4(CFTR):c.1A>G (p.Met1Val)	SNV Germline	Chr7:117480095	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA345308	rs_397508328	10 SubmittersRCV000056356 RCV000755921 RCV001826627
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	SNV Germline	Chr7:117509069	Pathogenic; drug response	Cystic fibrosis Condition: not provided ivacaftor response - Efficacy Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA345310	rs_368505753	23 SubmittersRCV000056357 RCV000724153 RCV000660821 RCV001004231 RCV001826628 RCV002247433 RCV002496711 RCV003473472
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)	SNV Germline	Chr7:117592184	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326730	rs_397508331	9 SubmittersRCV000046523 RCV001831743 RCV003473473 RCV002483054
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)	SNV Germline	Chr7:117509071	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326732	rs_397508332	8 SubmittersRCV000577254 RCV000586819 RCV004734605
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)	SNV Germline	Chr7:117592203	Pathogenic	Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA326734	rs_397508333	5 SubmittersRCV000046525 RCV004795980 RCV003473474
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter)	SNV Germline	Chr7:117592220	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326740	rs_397508336	2 SubmittersRCV000046532 RCV001826629
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)	SNV Germline	Chr7:117592292	Pathogenic	Cystic fibrosis Condition: not provided not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328093	rs_121908760	15 SubmittersRCV000056359 RCV000727640 RCV001000919 RCV001004468 RCV001826631 RCV003473476
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)	SNV Germline	Chr7:117592293	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA326749	rs_397508342	3 SubmittersRCV001004469 RCV004566870 RCV002415501 RCV003155057
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr7:117592310	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326751	rs_397508343	3 SubmittersRCV000576466 RCV001826632
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)	SNV Germline	Chr7:117592323	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326754	rs_397508345	2 SubmittersRCV000577719
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)	SNV Germline	Chr7:117592325	Pathogenic	Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	CA326756	rs_397508346	5 SubmittersRCV000785630 RCV001826633 RCV005042133
NM_000492.4(CFTR):c.215C>A (p.Ala72Asp)	SNV Germline	Chr7:117509084	Likely pathogenic	CFTR-related disorder	No Assertion Criteria Provided		rs_397508347	1 SubmittersRCV005606511
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	SNV Germline	Chr7:117592340	Conflicting classifications of pathogenicity	CFTR-related disorder Cystic fibrosis Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326762	rs_199791061	13 SubmittersRCV001009489 RCV000577536 RCV000590320 RCV002265582 RCV005042134
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)	SNV Germline	Chr7:117592362	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328095	rs_397508350	13 SubmittersRCV000056360 RCV001269766 RCV001831744 RCV003473477
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)	SNV Germline	Chr7:117592377	Conflicting classifications of pathogenicity	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA326770	rs_186089140	8 SubmittersRCV001369922 RCV003466904 RCV004998161
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)	SNV Germline	Chr7:117509090	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA243179	rs_142540482	14 SubmittersRCV000046556 RCV000177074 RCV000589418 RCV001161752
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter)	SNV Germline	Chr7:117592400	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326772	rs_397508354	3 SubmittersRCV001009459 RCV001831745
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	SNV Germline	Chr7:117592416	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA221011	rs_140455771	25 SubmittersRCV000078984 RCV000675059 RCV001009488 RCV001588874 RCV002256031 RCV003473479 RCV005031496
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)	SNV Germline	Chr7:117592426	Conflicting classifications of pathogenicity	CFTR-related disorder Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA326782	rs_201888075	5 SubmittersRCV001163689 RCV001491792 RCV003987338
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)	SNV Germline	Chr7:117592427	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326784	rs_150157202	19 SubmittersRCV000046566 RCV000589543 RCV000242825 RCV001163690 RCV002255272
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)	SNV Germline	Chr7:117592457	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328100	rs_121908810	11 SubmittersRCV000056363 RCV000759035 RCV001004473 RCV001831746 RCV003473480
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)	SNV Germline	Chr7:117592494	Pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA326792	rs_397508365	4 SubmittersRCV000577388 RCV001831747
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)	SNV Germline	Chr7:117592508	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326796	rs_397508368	3 SubmittersRCV001922461
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)	SNV Germline	Chr7:117592520	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326800	rs_374946172	9 SubmittersRCV000046582 RCV001004474 RCV001826635 RCV003473483 RCV005042136
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)	SNV Germline	Chr7:117509105	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326804	rs_397508371	4 SubmittersRCV000577054
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)	SNV Germline	Chr7:117592541	Pathogenic	Cystic fibrosis not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326807	rs_145449046	10 SubmittersRCV000046586 RCV000780127 RCV001004475 RCV001826636 RCV004566871
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	SNV Germline	Chr7:117592584	Conflicting classifications of pathogenicity	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA326813	rs_397508375	11 SubmittersRCV000577591 RCV001004476 RCV001255509 RCV001588875 RCV001781374 RCV002228157 RCV003473484 RCV005031497
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)	SNV Germline	Chr7:117592607	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA326818	rs_397508377	5 SubmittersRCV000576941 RCV004566872 RCV001831749
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)	SNV Germline	Chr7:117592631	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326820	rs_397508378	2 SubmittersRCV000577213
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)	SNV Germline	Chr7:117592631	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328102	rs_397508378	7 SubmittersRCV000056365 RCV002496712 RCV001004478 RCV001200188 RCV001831750 RCV003473485
NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter)	SNV Germline	Chr7:117592634	Pathogenic	Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326821	rs_397508379	2 SubmittersRCV003475696 RCV004701076
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)	SNV Germline	Chr7:117592655	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326826	rs_397508382	2 SubmittersRCV000577412
NM_000492.4(CFTR):c.2491-2A>G	SNV Unknown	Chr7:117594928	Pathogenic	Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Single Submitter		rs_397508386	1 SubmittersRCV004575628
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)	SNV Germline	Chr7:117594930	Pathogenic	Cystic fibrosis Hereditary pancreatitis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA345311	rs_397508387	11 SubmittersRCV000056366 RCV001197557 RCV001826638 RCV003473487 RCV005031498
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter)	SNV Germline	Chr7:117594935	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326832	rs_397508388	1 SubmittersRCV001009465
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	SNV Germline	Chr7:117594945	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326836	rs_201386642	17 SubmittersRCV000046610 RCV000224075 RCV000825894 RCV004734606 RCV002288550
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)	SNV Germline	Chr7:117594976	Pathogenic	Cystic fibrosis not specified CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328104	rs_397508393	9 SubmittersRCV000056367 RCV000781236 RCV001826640 RCV001529697 RCV004566873
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)	SNV Germline	Chr7:117594986	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326841	rs_397508394	8 SubmittersRCV000046615 RCV001009528 RCV001826641
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)	SNV Germline	Chr7:117509123	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA326843	rs_75961395	3 SubmittersRCV000577243
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)	SNV Germline	Chr7:117594991	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326845	rs_397508395	7 SubmittersRCV000577717 RCV001826642
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter)	SNV Germline	Chr7:117595039	Pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Single Submitter	CA326859	rs_397508404	1 SubmittersRCV001009508
NM_000492.4(CFTR):c.2619+2T>A	SNV Germline	Chr7:117595060	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326863	rs_397508407	2 SubmittersRCV000577222
NM_000492.4(CFTR):c.2620-6T>C	SNV Germline	Chr7:117602820	Conflicting classifications of pathogenicity	Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis not specified CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326870	rs_371315682	11 SubmittersRCV000589355 RCV001588876 RCV000987963 RCV001358661 RCV004542716
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)	SNV Germline	Chr7:117509132	Pathogenic	Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	CA326872	rs_397508412	6 SubmittersRCV000576641 RCV001826643 RCV005042137
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	SNV Germline	Chr7:117509132	Pathogenic	Cystic fibrosis not specified CFTR-related disorder CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA326876	rs_397508412	9 SubmittersRCV000046644 RCV000781278 RCV001835659 RCV002281549 RCV003473490 RCV005042138
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)	SNV Germline	Chr7:117602851	Pathogenic	Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326877	rs_397508413	6 SubmittersRCV003466905 RCV000576558 RCV001826644
NM_000492.4(CFTR):c.2658-1G>T	SNV Germline	Chr7:117603531	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326881	rs_397508416	1 SubmittersRCV001009452
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)	SNV Germline	Chr7:117603553	Conflicting classifications of pathogenicity	not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326886	rs_397508419	8 SubmittersRCV001002013 RCV001250515 RCV005042140
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)	SNV Germline	Chr7:117603558	Conflicting classifications of pathogenicity	not specified Cystic fibrosis CFTR-related disorder Condition: not provided Breast neoplasm Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326888	rs_201864483	12 SubmittersRCV000508371 RCV000667642 RCV001158765 RCV001284478 RCV001265632 RCV002257389
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)	SNV Germline	Chr7:117603580	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326894	rs_397508422	3 SubmittersRCV000757863
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	SNV Germline	Chr7:117603597	Conflicting classifications of pathogenicity	CFTR-related disorder Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326898	rs_369521395	7 SubmittersRCV001009494 RCV000577705 RCV003235015 RCV003473492
NM_000492.4(CFTR):c.273+1G>A	SNV Germline	Chr7:117509143	Pathogenic	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328106	rs_121908791	11 SubmittersRCV000056369 RCV000224473 RCV000780139 RCV001835660 RCV002490612 RCV003473493
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)	SNV Germline	Chr7:117603609	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326900	rs_121909034	9 SubmittersRCV000046665 RCV001009512 RCV001826646 RCV002256032 RCV003474549
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)	SNV Germline	Chr7:117603613	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326903	rs_149790377	11 SubmittersRCV000046670 RCV001004486 RCV001509321 RCV001831754 RCV003474550
NM_000492.4(CFTR):c.274-1G>C	SNV Germline	Chr7:117530898	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA326906	rs_121908792	6 SubmittersRCV000664921 RCV004566874
NM_000492.4(CFTR):c.274-1G>T	SNV Germline	Chr7:117530898	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA326907	rs_121908792	1 SubmittersRCV001009450
NM_000492.4(CFTR):c.274-2A>G	SNV Germline	Chr7:117530897	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326908	rs_397508426	10 SubmittersRCV000577517 RCV001831755 RCV003474551
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	SNV Germline	Chr7:117603632	Conflicting classifications of pathogenicity	not specified Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326916	rs_373885282	15 SubmittersRCV000781291 RCV000577642 RCV000731224 RCV000765926 RCV004537227
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)	SNV Germline	Chr7:117603632	Conflicting classifications of pathogenicity	Cystic fibrosis Obstructive azoospermia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA326918	rs_373885282	8 SubmittersRCV000577094 RCV001646981 RCV000723423 RCV003230381
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)	SNV Germline	Chr7:117530901	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326921	rs_397508432	5 SubmittersRCV001277174
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)	SNV Germline	Chr7:117603654	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA328107	rs_397508435	6 SubmittersRCV000056371 RCV001826648
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)	SNV Germline	Chr7:117603671	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA326927	rs_397508436	8 SubmittersRCV000577327 RCV001009477 RCV001588877 RCV000595350
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)	SNV Germline	Chr7:117603682	Conflicting classifications of pathogenicity	not specified Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA326931	rs_397508438	4 SubmittersRCV001260391 RCV001705705 RCV001532117
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)	SNV Germline	Chr7:117603690	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA326935	rs_397508440	3 SubmittersRCV002433535 RCV005429219
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	SNV Germline	Chr7:117603708	Pathogenic; drug response	Cystic fibrosis Condition: not provided CFTR-related disorder Cystic fibrosis CFTR-related disorder ivacaftor response - Efficacy Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA345314	rs_397508442	21 SubmittersRCV000056372 RCV000723381 RCV001009364 RCV001027913 RCV000660828 RCV001004489 RCV003474554 RCV005031500
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)	SNV Germline	Chr7:117603720	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA326942	rs_397508444	8 SubmittersRCV000577071 RCV001835661 RCV005600633
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	SNV Germline	Chr7:117603730	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326946	rs_151048781	21 SubmittersRCV000577274 RCV000588974 RCV000733156 RCV001009476 RCV003474555 RCV005031501
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)	SNV Germline	Chr7:117603782	Conflicting classifications of pathogenicity	Cystic fibrosis Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA326958	rs_397508453	6 SubmittersRCV000673430 RCV002247434 RCV003476942
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)	SNV Germline	Chr7:117603782	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA328109	rs_397508453	5 SubmittersRCV000056374 RCV001826650
NM_000492.4(CFTR):c.2909-15T>G	SNV Germline	Chr7:117606659	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis CFTR-related disorder Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326961	rs_397508455	11 SubmittersRCV000508198 RCV001009391 RCV000670991 RCV005031502
NM_000492.4(CFTR):c.2909-1G>A	SNV Germline	Chr7:117606673	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA326962	rs_397508456	1 SubmittersRCV001780490
NM_000492.4(CFTR):c.2909-4A>G	SNV Germline	Chr7:117606670	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA326963	rs_397508457	6 SubmittersRCV000593074 RCV000665147 RCV001826651
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)	SNV Germline	Chr7:117606694	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA326973	rs_137975784	3 SubmittersRCV000577747
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	SNV Germline	Chr7:117530917	Pathogenic	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Reviewed By Expert Panel	CA345317	rs_397508461	10 SubmittersRCV000056375 RCV000781254 RCV003474557 RCV001831761
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)	SNV Germline	Chr7:117606701	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326977	rs_397508462	9 SubmittersRCV000577756 RCV000586469 RCV001811324 RCV004795981 RCV003474559
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)	SNV Germline	Chr7:117606701	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326979	rs_397508462	4 SubmittersRCV000577309 RCV001009520
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	SNV Germline	Chr7:117606704	Conflicting classifications of pathogenicity	not specified CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326981	rs_397508463	9 SubmittersRCV001001213 RCV001009475 RCV000586046 RCV000577032 RCV003137585 RCV005031504
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	SNV Germline	Chr7:117530918	Pathogenic	not specified Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA326985	rs_397508464	13 SubmittersRCV000505966 RCV000763149 RCV000588283 RCV001004424 RCV001831762 RCV003474560 RCV003476943
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)	SNV Germline	Chr7:117530921	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA326991	rs_397508467	6 SubmittersRCV000577122 RCV001009535
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)	SNV Germline	Chr7:117606742	Conflicting classifications of pathogenicity	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326993	rs_397508468	6 SubmittersRCV000577451 RCV003474561 RCV003155058 RCV005042141
NM_000492.4(CFTR):c.2989-1G>A	SNV Germline	Chr7:117610518	Pathogenic	Cystic fibrosis CFTR-related disorder not specified Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA345319	rs_397508470	13 SubmittersRCV000056376 RCV001831764 RCV000780171 RCV003466906 RCV001781375 RCV002490613
NM_000492.4(CFTR):c.2989-2A>G	SNV Germline	Chr7:117610517	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA326997	rs_193922515	10 SubmittersRCV000046741 RCV001004286 RCV001831765 RCV003114231 RCV003474562
NM_000492.4(CFTR):c.2989-3C>G	SNV Germline	Chr7:117610516	Conflicting classifications of pathogenicity	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326998	rs_397508471	3 SubmittersRCV000577459 RCV003474563
NM_000492.4(CFTR):c.2T>A (p.Met1Lys)	SNV Germline	Chr7:117480096	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327003	rs_397508476	2 SubmittersRCV000577491
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:117480096	Pathogenic	Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA327005	rs_397508476	13 SubmittersRCV000046751 RCV002477157 RCV002262607 RCV001826652 RCV003476944
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	SNV Germline	Chr7:117610544	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327012	rs_397508479	6 SubmittersRCV000577028 RCV003474564
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	SNV Germline	Chr7:117610547	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided	Reviewed By Expert Panel	CA327013	rs_397508480	8 SubmittersRCV000577175 RCV001004287 RCV003159093
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)	SNV Germline	Chr7:117530927	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327020	rs_397508484	2 SubmittersRCV000577461
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)	SNV Germline	Chr7:117610568	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327022	rs_193922516	11 SubmittersRCV000577169 RCV004791247 RCV005042142 RCV001831767
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	SNV Germline	Chr7:117610577	Conflicting classifications of pathogenicity	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA327027	rs_397508488	7 SubmittersRCV001004288 RCV000577048 RCV001174827
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)	SNV Germline	Chr7:117530930	Likely pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Single Submitter	CA327031	rs_397508490	3 SubmittersRCV000577371 RCV005606641
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)	SNV Germline	Chr7:117610591	Conflicting classifications of pathogenicity	CFTR-related disorder Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327033	rs_397508491	5 SubmittersRCV001826654 RCV000577484
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	SNV Germline	Chr7:117610613	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis not specified CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327038	rs_397508494	7 SubmittersRCV000755919 RCV001785468 RCV003235016 RCV001826655
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	SNV Germline	Chr7:117610633	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327043	rs_397508496	7 SubmittersRCV000046781 RCV001831769 RCV003466907
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	SNV Germline	Chr7:117610637	Pathogenic	Cystic fibrosis not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA327046	rs_397508498	9 SubmittersRCV000577654 RCV000781270 RCV001004291 RCV004566875 RCV002254276
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)	SNV Germline	Chr7:117610654	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327049	rs_397508500	6 SubmittersRCV000576454 RCV001826656
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly)	SNV Germline	Chr7:117610661	Conflicting classifications of pathogenicity	not specified Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327051	rs_397508501	2 SubmittersRCV000505907 RCV004586521
NM_000492.4(CFTR):c.3139+1G>A	SNV Germline	Chr7:117610670	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327054	rs_397508503	1 SubmittersRCV001009408
NM_000492.4(CFTR):c.3140-1G>A	SNV Germline	Chr7:117611580	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327060	rs_397508506	3 SubmittersRCV000664999 RCV003474567
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)	SNV Germline	Chr7:117530939	Pathogenic/Likely pathogenic	Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327065	rs_397508509	4 SubmittersRCV001382997 RCV001826657 RCV005042143
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	SNV Germline	Chr7:117611599	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA327068	rs_140883683	8 SubmittersRCV000046800 RCV000587271 RCV003474568 RCV001826658 RCV001800353
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)	SNV Germline	Chr7:117611601	Pathogenic	Cystic fibrosis not specified CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327070	rs_397508510	7 SubmittersRCV000046801 RCV000781263 RCV001826659 RCV004566876
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	SNV Germline	Chr7:117611622	Pathogenic	Cystic fibrosis Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA221023	rs_142394380	10 SubmittersRCV000046807 RCV000078994 RCV000999884 RCV001004296 RCV001831770 RCV003466908
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)	SNV Germline	Chr7:117611630	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327080	rs_397508514	3 SubmittersRCV000577785
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	SNV Germline	Chr7:117611635	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327084	rs_121909036	4 SubmittersRCV000577502 RCV003466909
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)	SNV Germline	Chr7:117611638	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327087	rs_121909019	4 SubmittersRCV000577722
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	SNV Germline	Chr7:117611641	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA327095	rs_1800114	11 SubmittersRCV000586398 RCV000670817 RCV004525827 RCV002228158 RCV005229869
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	SNV Germline	Chr7:117611646	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder not specified Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA327097	rs_200321110	20 SubmittersRCV000046823 RCV000506564 RCV001009473 RCV001375487 RCV003474569 RCV004795982 RCV002226453 RCV005031506
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)	SNV Germline	Chr7:117611650	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327100	rs_78769542	2 SubmittersRCV000577217
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)	SNV Germline	Chr7:117611652	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327101	rs_397508517	1 SubmittersRCV001009404
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	SNV Germline	Chr7:117611671	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328111	rs_139304906	14 SubmittersRCV000056377 RCV001004303 RCV001826661 RCV001508221 RCV005031508 RCV003474572
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	SNV Germline	Chr7:117530948	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA327108	rs_397508520	7 SubmittersRCV000577153 RCV001009379 RCV003466910
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)	SNV Germline	Chr7:117611698	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327112	rs_77958296	4 SubmittersRCV000665381
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)	SNV Germline	Chr7:117530950	Conflicting classifications of pathogenicity	Cystic fibrosis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA327114	rs_397508522	5 SubmittersRCV000672235 RCV005031509
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)	SNV Germline	Chr7:117611703	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327116	rs_397508523	5 SubmittersRCV000577535
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	SNV Germline	Chr7:117530952	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327123	rs_397508528	5 SubmittersRCV000577345
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)	SNV Germline	Chr7:117530953	Conflicting classifications of pathogenicity	not specified Cystic fibrosis Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327127	rs_113993958	7 SubmittersRCV000508454 RCV001705706 RCV003480044 RCV004537229
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	SNV Germline	Chr7:117611733	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA327130	rs_397508531	11 SubmittersRCV000577522 RCV000985688 RCV005031510
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)	SNV Germline	Chr7:117611734	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327131	rs_397508532	7 SubmittersRCV000046855 RCV001009509 RCV001831771 RCV004566877
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)	SNV Germline	Chr7:117611735	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327132	rs_397508533	5 SubmittersRCV000576929 RCV002281550
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	SNV Germline	Chr7:117611740	Pathogenic/Likely pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327135	rs_397508535	9 SubmittersRCV000577192 RCV001004493 RCV001831772 RCV003474574
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)	SNV Germline	Chr7:117611743	Pathogenic	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327137	rs_36210737	5 SubmittersRCV000785632 RCV000508206 RCV004566878
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)	SNV Germline	Chr7:117611745	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327138	rs_397508536	7 SubmittersRCV000046861 RCV001826662
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)	SNV Germline	Chr7:117611751	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA328113	rs_397508538	7 SubmittersRCV000056381 RCV001831774
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)	SNV Germline	Chr7:117530956	Pathogenic/Likely pathogenic	CFTR-related disorder Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327145	rs_397508541	4 SubmittersRCV001009499 RCV000577688
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	SNV Germline	Chr7:117530957	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder See cases not specified	Criteria Provided Conflicting Classifications	CA327149	rs_140502196	14 SubmittersRCV000046868 RCV000590642 RCV001009500 RCV002251952 RCV001844026
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)	SNV Germline	Chr7:117611794	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA327150	rs_146521846	4 SubmittersRCV000576956 RCV004526606 RCV003474576
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	SNV Germline	Chr7:117611794	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Reviewed By Expert Panel	CA327152	rs_146521846	12 SubmittersRCV000577360 RCV001781376 RCV002281551 RCV005031511 RCV003474577 RCV004734608
NM_000492.4(CFTR):c.3368-1G>A	SNV Germline	Chr7:117614612	Likely pathogenic	Cystic fibrosis	Criteria Provided Single Submitter		rs_397508547	1 SubmittersRCV005200642
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)	SNV Germline	Chr7:117614627	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327162	rs_397508549	4 SubmittersRCV001731142 RCV001832867
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	SNV Germline	Chr7:117614654	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Infertility disorder	Criteria Provided Conflicting Classifications	CA327169	rs_397508553	10 SubmittersRCV000577660 RCV000590826 RCV003474578 RCV002223781 RCV001327955
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)	SNV Germline	Chr7:117614655	Pathogenic/Likely pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327172	rs_397508555	4 SubmittersRCV000577123
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)	SNV Germline	Chr7:117614660	Conflicting classifications of pathogenicity	not specified Condition: not provided CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327174	rs_397508556	13 SubmittersRCV000508519 RCV000727469 RCV002281552 RCV005042144 RCV001857385
NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys)	SNV Germline	Chr7:117614664	Likely pathogenic	Cystic fibrosis Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	Criteria Provided Single Submitter	CA327178	rs_397508558	2 SubmittersRCV000576944 RCV004018953
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)	SNV Germline	Chr7:117614675	Pathogenic	Cystic fibrosis CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA327181	rs_397508560	4 SubmittersRCV001389828 RCV001826664
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)	SNV Germline	Chr7:117614680	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA327183	rs_397508561	5 SubmittersRCV000576362 RCV001811326 RCV001826665
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)	SNV Germline	Chr7:117614703	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 not specified	Criteria Provided Conflicting Classifications	CA327194	rs_397508567	8 SubmittersRCV000577089 RCV001508225 RCV001009502 RCV003474579 RCV004689435
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)	SNV Germline	Chr7:117614706	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA327198	rs_397508569	5 SubmittersRCV000577763 RCV001009503 RCV004700332 RCV003235017
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	SNV Germline	Chr7:117614713	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis CFTR-related disorder	Reviewed By Expert Panel	CA242034	rs_139729994	15 SubmittersRCV000046899 RCV001009370 RCV000428306 RCV003474580 RCV005042145 RCV001826667
NM_000492.4(CFTR):c.3469-17T>C	SNV Germline	Chr7:117627505	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327200	rs_199630678	12 SubmittersRCV000245337 RCV000726749 RCV004795983 RCV001082947
NM_000492.4(CFTR):c.3469-2A>G	SNV Germline	Chr7:117627520	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA327201	rs_397508570	5 SubmittersRCV000577266 RCV003466911 RCV001831775
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	SNV Germline	Chr7:117530971	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	CA327204	rs_397508571	8 SubmittersRCV000577691 RCV000755922 RCV002281553 RCV005031512
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)	SNV Germline	Chr7:117627528	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327208	rs_397508572	4 SubmittersRCV000785634 RCV003474581
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)	SNV Germline	Chr7:117627529	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA327210	rs_397508573	6 SubmittersRCV000577354
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	SNV Germline	Chr7:117530974	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA327217	rs_77834169	11 SubmittersRCV000670642 RCV001811327 RCV003474582 RCV005357374 RCV002281554
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)	SNV Germline	Chr7:117530975	Pathogenic	Cystic fibrosis Condition: not provided	Reviewed By Expert Panel	CA327221	rs_78655421	7 SubmittersRCV000577567 RCV001563129
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	SNV Germline	Chr7:117530975	Pathogenic/Likely 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	Criteria Provided Multiple Submitters No Conflicts	CA327222	rs_78655421	10 SubmittersRCV000577295 RCV000985692 RCV003474583 RCV003483455
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)	SNV Germline	Chr7:117627582	Likely pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA327223	rs_397508578	2 SubmittersRCV000577595
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)	SNV Germline	Chr7:117627599	Pathogenic/Likely pathogenic	not specified Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327228	rs_397508581	3 SubmittersRCV000781268 RCV001852981
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter)	SNV Unknown	Chr7:117627609	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327230	rs_397508582	1 SubmittersRCV002284587
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	SNV Germline	Chr7:117530983	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified Bronchiectasis with or without elevated sweat chloride 1 Infertility disorder Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Conflicting Classifications	CA327235	rs_201958172	18 SubmittersRCV000577110 RCV000587814 RCV001731339 RCV003474584 RCV001327956 RCV005430953
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)	SNV Germline	Chr7:117627665	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder not specified CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA221029	rs_121908765	11 SubmittersRCV000056384 RCV001009526 RCV000781267 RCV001826668 RCV003474585 RCV000790735
NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter)	SNV Germline	Chr7:117627670	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327240	rs_397508588	1 SubmittersRCV001009399
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)	SNV Germline	Chr7:117627670	Pathogenic	Cystic fibrosis Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA327242	rs_397508588	5 SubmittersRCV000577418 RCV001009531 RCV005042146
NM_000492.4(CFTR):c.3717+40A>G	SNV Germline	Chr7:117627810	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327255	rs_397508595	10 SubmittersRCV000576505 RCV000727551 RCV001826670 RCV001009536 RCV003474586
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)	SNV Germline	Chr7:117627770	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA327257	rs_144781064	6 SubmittersRCV000576710
NM_000492.4(CFTR):c.3718-3T>G	SNV Germline	Chr7:117642435	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327260	rs_397508596	6 SubmittersRCV000046958 RCV003466912
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)	SNV Germline	Chr7:117642439	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA327262	rs_397508598	6 SubmittersRCV000577207
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg)	SNV Germline	Chr7:117642450	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327264	rs_397508599	1 SubmittersRCV001387159
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	SNV Germline	Chr7:117642451	Pathogenic; drug response	ivacaftor response - Efficacy Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA328120	rs_267606723	12 SubmittersRCV000211150 RCV000056386 RCV000763160 RCV001004504 RCV001831779 RCV003474587 RCV002247437
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	SNV Germline	Chr7:117642457	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided CFTR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA327268	rs_397508600	12 SubmittersRCV000668850 RCV003474588 RCV001811328 RCV002281555
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)	SNV Germline	Chr7:117642465	Pathogenic	CFTR-related disorder Cystic fibrosis	Reviewed By Expert Panel	CA327272	rs_397508602	4 SubmittersRCV001826671 RCV000577065
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	SNV Germline	Chr7:117530999	Conflicting classifications of pathogenicity	not specified Cystic fibrosis CFTR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA327274	rs_141723617	12 SubmittersRCV000595646 RCV001081823 RCV001163272 RCV001509309
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)	SNV Germline	Chr7:117642481	Pathogenic	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327280	rs_397508604	7 SubmittersRCV000046973 RCV001004506 RCV001826672 RCV004767042 RCV003474589
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)	SNV Germline	Chr7:117531001	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Conflicting Classifications	CA327284	rs_397508606	5 SubmittersRCV000577162 RCV002281737 RCV001580452
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)	SNV Germline	Chr7:117642491	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327286	rs_397508607	5 SubmittersRCV000046979
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	SNV Germline	Chr7:117531002	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA327290	rs_397508609	14 SubmittersRCV000577044 RCV002228161 RCV001004429 RCV002281556 RCV003474590 RCV003736567 RCV005031514
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)	SNV Germline	Chr7:117642542	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327299	rs_397508613	4 SubmittersRCV000577787 RCV001826673
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)	SNV Germline	Chr7:117642561	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327302	rs_397508615	4 SubmittersRCV000577368
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)	SNV Germline	Chr7:117642564	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327304	rs_397508616	5 SubmittersRCV000577632 RCV003474591
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)	SNV Germline	Chr7:117642564	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327305	rs_397508616	3 SubmittersRCV000577082
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	SNV Germline	Chr7:117642574	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided Hereditary pancreatitis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327309	rs_397508617	12 SubmittersRCV000577447 RCV000585919 RCV001507714 RCV003448254 RCV004537230
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser)	SNV Germline	Chr7:117642588	Conflicting classifications of pathogenicity	Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA327312	rs_397508619	4 SubmittersRCV000577136 RCV005031515 RCV005406778
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)	SNV Germline	Chr7:117642591	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327314	rs_397508620	5 SubmittersRCV000577232 RCV003474592
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)	SNV Germline	Chr7:117642592	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder not specified Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327316	rs_397508621	6 SubmittersRCV001009375 RCV000506407 RCV000664625
NM_000492.4(CFTR):c.3873+2T>C	SNV Germline	Chr7:117642595	Pathogenic	Condition: not provided CFTR-related disorder Cystic fibrosis	Reviewed By Expert Panel	CA327317	rs_146795445	8 SubmittersRCV001507715 RCV001831780 RCV000576323
NM_000492.4(CFTR):c.3874-1G>A	SNV Germline	Chr7:117652841	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327321	rs_397508624	8 SubmittersRCV000577716 RCV003474593
NM_000492.4(CFTR):c.3874-4A>G	SNV Germline	Chr7:117652838	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327322	rs_201381687	4 SubmittersRCV000665032 RCV001158875
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)	SNV Germline	Chr7:117652864	Conflicting classifications of pathogenicity	not specified Cystic fibrosis Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327332	rs_397508634	10 SubmittersRCV001002282 RCV000577585 RCV001507716 RCV001831784
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	SNV Germline	Chr7:117480132	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327334	rs_397508635	9 SubmittersRCV000577001 RCV000759040 RCV001004226 RCV003474596
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)	SNV Germline	Chr7:117652876	Pathogenic/Likely pathogenic	CFTR-related disorder Cystic fibrosis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327335	rs_397508636	8 SubmittersRCV001009506 RCV000577150 RCV001004512 RCV001530074 RCV004566879
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)	SNV Germline	Chr7:117652890	Likely pathogenic	Cystic fibrosis	No Assertion Criteria Provided	CA327349	rs_397508643	2 SubmittersRCV000577670
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)	SNV Germline	Chr7:117652897	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327353	rs_397508645	4 SubmittersRCV000047036 RCV001831786
NM_000492.4(CFTR):c.3963+2T>A	SNV Germline	Chr7:117652933	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327364	rs_397508650	2 SubmittersRCV000577173
NM_000492.4(CFTR):c.3964-3C>G	SNV Germline	Chr7:117664685	Conflicting classifications of pathogenicity	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA327366	rs_397508652	5 SubmittersRCV000577488 RCV003474597
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)	SNV Germline	Chr7:117664695	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA327367	rs_397508653	5 SubmittersRCV000576921
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)	SNV Germline	Chr7:117480097	Pathogenic	Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327373	rs_397508657	2 SubmittersRCV000757844
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	SNV Germline	Chr7:117664728	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA327378	rs_397508658	11 SubmittersRCV000047055 RCV002228162 RCV003474598 RCV005031519
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)	SNV Germline	Chr7:117480134	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327398	rs_397508673	2 SubmittersRCV001009425 RCV003466913
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)	SNV Germline	Chr7:117664835	Pathogenic	not specified Condition: not provided Cystic fibrosis	Reviewed By Expert Panel	CA327404	rs_397508675	7 SubmittersRCV000780149 RCV002477160 RCV000047076
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)	SNV Germline	Chr7:117664848	Pathogenic	Cystic fibrosis	Reviewed By Expert Panel	CA327412	rs_397508678	5 SubmittersRCV000757787
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)	SNV Germline	Chr7:117664853	Conflicting classifications of pathogenicity	Condition: not provided CFTR-related disorder not specified Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327414	rs_150683293	6 SubmittersRCV000300236 RCV001009485 RCV003488366 RCV001852982
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)	SNV Germline	Chr7:117665466	Pathogenic	Cystic fibrosis Condition: not provided CFTR-related disorder	Reviewed By Expert Panel	CA327424	rs_397508684	9 SubmittersRCV000047087 RCV001091002 RCV001826680
NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter)	SNV Germline	Chr7:117665490	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327432	rs_397508689	1 SubmittersRCV001009422
NM_000492.4(CFTR):c.416A>G (p.His139Arg)	SNV Germline	Chr7:117531041	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA327434	rs_76371115	5 SubmittersRCV000577519 RCV003474600
NM_000492.4(CFTR):c.416A>T (p.His139Leu)	SNV Germline	Chr7:117531041	Pathogenic/Likely pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA327435	rs_76371115	8 SubmittersRCV000577674 RCV000985694 RCV003466914
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)	SNV Germline	Chr7:117665515	Conflicting classifications of pathogenicity	Cystic fibrosis not specified	Criteria Provided Conflicting Classifications	CA327441	rs_397508692	5 SubmittersRCV001272369 RCV000781272
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)	SNV Germline	Chr7:117665523	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327449	rs_397508696	2 SubmittersRCV000577074
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	SNV Germline	Chr7:117665547	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA327456	rs_397508699	9 SubmittersRCV000576918 RCV001811330 RCV002504943
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)	SNV Germline	Chr7:117531047	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327458	rs_397508700	5 SubmittersRCV000577350
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)	SNV Germline	Chr7:117665553	Pathogenic	Cystic fibrosis CFTR-related disorder	Reviewed By Expert Panel	CA327459	rs_397508701	6 SubmittersRCV000047110 RCV001826682
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)	SNV Germline	Chr7:117665556	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Reviewed By Expert Panel	CA327461	rs_397508702	8 SubmittersRCV000047111 RCV001826683 RCV003474601 RCV005031521
NM_000492.4(CFTR):c.4242+10T>C	SNV Germline	Chr7:117665574	Conflicting classifications of pathogenicity	not specified CFTR-related disorder Cystic fibrosis Condition: not provided	Criteria Provided Conflicting Classifications	CA146702	rs_138642693	10 SubmittersRCV000079004 RCV001158877 RCV001080172 RCV001528665
NM_000492.4(CFTR):c.4242+1G>A	SNV Germline	Chr7:117665565	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	CA327465	rs_372227120	9 SubmittersRCV000576317 RCV002504944 RCV001826684
NM_000492.4(CFTR):c.4242+1G>T	SNV Germline	Chr7:117665565	Pathogenic	Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Cystic fibrosis	Reviewed By Expert Panel	CA327466	rs_372227120	8 SubmittersRCV001004307 RCV001831791 RCV000047115
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)	SNV Germline	Chr7:117666917	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327469	rs_397508707	2 SubmittersRCV000047120
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	SNV Germline	Chr7:117666941	Conflicting classifications of pathogenicity	Cystic fibrosis CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA327473	rs_397508708	6 SubmittersRCV000665842 RCV001009481 RCV003317064
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)	SNV Germline	Chr7:117666998	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications	CA327479	rs_148783445	14 SubmittersRCV000047128 RCV000506986 RCV000586730 RCV004537233
NM_000492.4(CFTR):c.434T>A (p.Leu145His)	SNV Germline	Chr7:117531059	Likely pathogenic	Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis	Criteria Provided Multiple Submitters No Conflicts	CA327481	rs_397508712	2 SubmittersRCV003475690 RCV004823160
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)	SNV Germline	Chr7:117667082	Pathogenic/Likely pathogenic	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Multiple Submitters No Conflicts	CA327487	rs_397508716	5 SubmittersRCV000577497 RCV000781256 RCV002496714
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	SNV Germline	Chr7:117667091	Pathogenic/Likely pathogenic	Cystic fibrosis not specified Condition: not provided Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA221031	rs_374705585	16 SubmittersRCV000047135 RCV000505964 RCV000388068 RCV002247439 RCV002477161 RCV001009479 RCV001004311 RCV003466915
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	SNV Germline	Chr7:117531068	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA327489	rs_35516286	8 SubmittersRCV000576960 RCV000593590 RCV001004430 RCV004566883
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)	SNV Germline	Chr7:117531070	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation	Criteria Provided Multiple Submitters No Conflicts	CA327493	rs_397508718	3 SubmittersRCV000577096 RCV003883127
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)	SNV Germline	Chr7:117531076	Pathogenic	Cystic fibrosis	Criteria Provided Single Submitter	CA327498	rs_397508720	2 SubmittersRCV000577704
NM_000492.4(CFTR):c.454A>G (p.Met152Val)	SNV Germline	Chr7:117531079	Pathogenic/Likely pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA327500	rs_397508721	9 SubmittersRCV000577102 RCV004566884 RCV004791248
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	SNV Germline	Chr7:117531101	Conflicting classifications of pathogenicity	Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327513	rs_397508727	9 SubmittersRCV000496886 RCV001811331 RCV001831792 RCV001852983 RCV003466916 RCV005031523
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)	SNV Germline	Chr7:117531106	Pathogenic	Cystic fibrosis Condition: not provided	Reviewed By Expert Panel	CA327519	rs_397508729	4 SubmittersRCV000577278 RCV005625252
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)	SNV Germline	Chr7:117531107	Conflicting classifications of pathogenicity	Cystic fibrosis	Criteria Provided Conflicting Classifications	CA327523	rs_397508730	3 SubmittersRCV000577416

NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr7:117559548

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Reviewed By Expert Panel

CA325518

rs_77101217

18 SubmittersRCV000007526 RCV002496294 RCV001004456 RCV002288473 RCV000727628 RCV003472999 RCV001835623

NM_000492.4(CFTR):c.328G>C (p.Asp110His)

SNV
Germline

Chr7:117530953

Pathogenic; drug response

Cystic fibrosis
Condition: not provided
ivacaftor response - Efficacy
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA284835

rs_113993958

17 SubmittersRCV000007527 RCV000058930 RCV000660769 RCV001009392 RCV001835624 RCV000780153 RCV001004427 RCV002247259 RCV003473000 RCV005042001

NM_000492.4(CFTR):c.350G>A (p.Arg117His)

SNV
Germline

Chr7:117530975

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
ivacaftor response - Efficacy
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Obstructive azoospermia
Bronchiectasis with or without elevated sweat chloride 1
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis

Practice Guideline

CA221026

rs_78655421

38 SubmittersRCV000007528 RCV000007529 RCV000078997 RCV000417156 RCV000826137 RCV000763151 RCV001009478 RCV001642199 RCV003473001 RCV004018585

NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)

SNV
Germline

Chr7:117540270

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

CA340630

rs_77932196

21 SubmittersRCV000007530 RCV001004251 RCV001831520 RCV002504761 RCV003473002 RCV001530124

NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)

SNV
Germline

Chr7:117548795

Pathogenic

Cystic fibrosis
ivacaftor response - Efficacy
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA340631

rs_74551128

24 SubmittersRCV000007531 RCV000660853 RCV001530091 RCV000763569 RCV001826427 RCV001004446 RCV003473003

NM_000492.4(CFTR):c.1585-1G>A

SNV
Germline

Chr7:117587738

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
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

Practice Guideline

CA340632

rs_76713772

28 SubmittersRCV000007532 RCV000224919 RCV001027893 RCV001004462 RCV002496295 RCV003473004

NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)

SNV
Germline

Chr7:117587833

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
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

Practice Guideline

CA340633

rs_80055610

20 SubmittersRCV000007533 RCV000224789 RCV001831521 RCV000780134 RCV001004262 RCV002504762 RCV003473005

NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)

SNV
Germline

Chr7:117590360

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis

Reviewed By Expert Panel

CA325520

rs_121909006

14 SubmittersRCV000007534 RCV001009533 RCV002254258 RCV004566688 RCV004734501 RCV001004266 RCV005042002

NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)

SNV
Germline

Chr7:117587778

Pathogenic

Cystic fibrosis
Condition: not provided
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA284836

rs_113993959

38 SubmittersRCV000007535 RCV000058931 RCV000119041 RCV001004463 RCV000763572 RCV001826428 RCV003473006

NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)

SNV
Germline

Chr7:117587800

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
CFTR-related disorder
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325521

rs_121908755

23 SubmittersRCV000007536 RCV000211264 RCV000727629 RCV001004465 RCV002247260 RCV001831522 RCV002496296 RCV003473007

NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)

SNV
Germline

Chr7:117587800

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA325522

rs_121908755

1 SubmittersRCV000007537

NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)

SNV
Germline

Chr7:117587801

Pathogenic; drug response

ivacaftor response - Efficacy
Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA254107

rs_121909005

20 SubmittersRCV000211129 RCV000056350 RCV000508411 RCV001004466 RCV001826538 RCV000763573 RCV003473249

NM_000492.4(CFTR):c.1721C>A (p.Pro574His)

SNV
Germline

Chr7:117590394

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325523

rs_121908758

11 SubmittersRCV000007539 RCV001004269 RCV001009367 RCV001831523 RCV002254259 RCV003473008 RCV002490333

NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)

SNV
Germline

Chr7:117587806

Pathogenic

Cystic fibrosis
Hereditary pancreatitis
ivacaftor response - Efficacy
Condition: not provided
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA340634

rs_75527207

28 SubmittersRCV000007540 RCV000119040 RCV000211289 RCV000301838 RCV000763574 RCV001004467 RCV001831524 RCV003473009

NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)

SNV
Germline

Chr7:117587811

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Practice Guideline

CA340635

rs_74597325

30 SubmittersRCV000007542 RCV000763575 RCV000506601 RCV000781237 RCV001004260 RCV003137499 RCV001831525

NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)

SNV
Germline

Chr7:117587829

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Reviewed By Expert Panel

CA340637

rs_75549581

17 SubmittersRCV000007543 RCV000521321 RCV001826429 RCV002476941 RCV003473010 RCV001004261

NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)

SNV
Germline

Chr7:117642484

Pathogenic

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325525

rs_76649725

12 SubmittersRCV000007545 RCV000781247 RCV001810834 RCV001831527 RCV003473012

NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)

SNV
Germline

Chr7:117559594

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
CFTR-related disorder
Condition: not provided
Infertility disorder
Obstructive azoospermia
Hereditary pancreatitis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA146695

rs_74571530

19 SubmittersRCV000007546 RCV000078978 RCV001009496 RCV001281707 RCV001327947 RCV001642200 RCV002255993 RCV005229769

NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)

SNV
Germline

Chr7:117594977

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
CFTR-related disorder

Reviewed By Expert Panel

CA325527

rs_267606722

9 SubmittersRCV000007547 RCV001004480 RCV004566689 RCV005042003 RCV001826430

NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)

SNV
Germline

Chr7:117603612

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA325529

rs_121909008

8 SubmittersRCV000007548 RCV001004485 RCV004566690 RCV005031407

NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)

SNV
Germline

Chr7:117642566

Pathogenic

Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
not specified
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA340638

rs_77010898

34 SubmittersRCV000271658 RCV000763161 RCV000007549 RCV001004509 RCV000780159 RCV002228015 RCV002255994 RCV003473013

NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)

SNV
Germline

Chr7:117559587

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA254110

rs_1800091

14 SubmittersRCV000007551 RCV000245320 RCV000759754 RCV001282755

NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)

SNV
Germline

Chr7:117548804

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA325530

rs_121909009

2 SubmittersRCV000007552

NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter)

SNV
Germline

Chr7:117652915

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA325531

rs_121909010

1 SubmittersRCV000007553

NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)

SNV
Germline

Chr7:117652877

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Spermatogenic failure, Y-linked, 2
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Practice Guideline

CA340641

rs_80034486

41 SubmittersRCV000007556 RCV000224445 RCV001004513 RCV002287325 RCV001831530 RCV002255995 RCV003473015 RCV005042004

NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)

SNV
Germline

Chr7:117627537

Pathogenic

Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis

Practice Guideline

CA340642

rs_74767530

25 SubmittersRCV000007557 RCV000780138 RCV001004500 RCV001831531 RCV003473016 RCV004720229 RCV000508142 RCV002504763

NM_000492.4(CFTR):c.3717+4A>G

SNV
Germline

Chr7:117627774

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA325534

rs_387906362

5 SubmittersRCV000007558

NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)

SNV
Germline

Chr7:117540230

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Practice Guideline

CA340644

rs_121909011

30 SubmittersRCV000007559 RCV000224060 RCV001826431 RCV003473017 RCV000763567 RCV001000033 RCV001004246 RCV005357089

NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)

SNV
Germline

Chr7:117594990

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided

Reviewed By Expert Panel

CA340645

rs_121909012

12 SubmittersRCV000007561 RCV001831532 RCV003473019 RCV001004481 RCV002476942

NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)

SNV
Germline

Chr7:117587805

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Hereditary pancreatitis

Reviewed By Expert Panel

CA325536

rs_121909013

13 SubmittersRCV000007562 RCV000211256 RCV000224595 RCV003473020 RCV001831533 RCV002247261

NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)

SNV
Germline

Chr7:117509123

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA340647

rs_75961395

25 SubmittersRCV000007563 RCV000224170 RCV001004234 RCV001831534 RCV002490334 RCV003473021

NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)

SNV
Germline

Chr7:117627525

Pathogenic

Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325537

rs_79850223

21 SubmittersRCV000579152 RCV000007564 RCV001004499 RCV000763158 RCV001831535 RCV003473022

NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)

SNV
Germline

Chr7:117559629

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA325545

rs_77646904

13 SubmittersRCV000007570 RCV001004460 RCV000781233 RCV003473023 RCV001528232 RCV001826436

NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)

SNV
Germline

Chr7:117559643

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325546

rs_121908754

7 SubmittersRCV000007571 RCV001831537 RCV003466827

NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)

SNV
Germline

Chr7:117642593

Pathogenic/Likely pathogenic

Cystic fibrosis
not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325548

rs_121909015

7 SubmittersRCV000007572 RCV000780123 RCV002228016 RCV003473024

NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)

SNV
Germline

Chr7:117540163

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Obstructive azoospermia

Reviewed By Expert Panel

CA325549

rs_121909016

8 SubmittersRCV000007573 RCV003473025 RCV001642201

NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)

SNV
Germline

Chr7:117559546

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA325551

rs_121909017

13 SubmittersRCV000007575 RCV001004455 RCV003473027 RCV000763571 RCV001810836 RCV004734502

NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)

SNV
Germline

Chr7:117587833

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325552

rs_80055610

8 SubmittersRCV000007576 RCV003466828

NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter)

SNV
Germline

Chr7:117592646

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA325553

rs_121909018

2 SubmittersRCV000007577

NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)

SNV
Germline

Chr7:117611638

Pathogenic

Cystic fibrosis
not specified
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325555

rs_121909019

14 SubmittersRCV000007578 RCV000506781 RCV000592350 RCV001004299 RCV001831538 RCV002496297 RCV003473028

NM_000492.4(CFTR):c.3873+1G>A

SNV
Germline

Chr7:117642594

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Condition: not provided
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

CA325556

rs_143570767

10 SubmittersRCV000007580 RCV001004510 RCV001831540 RCV003736536 RCV002496298

NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)

SNV
Germline

Chr7:117611637

Pathogenic

Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325558

rs_78194216

24 SubmittersRCV000723839 RCV001004298 RCV000007582 RCV001001063 RCV002496299 RCV001831541 RCV003473029

NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)

SNV
Germline

Chr7:117642528

Conflicting classifications of pathogenicity

Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
not specified
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA254112

rs_11971167

19 SubmittersRCV000007584 RCV000046985 RCV000176372 RCV000480239 RCV000587433 RCV001158873 RCV005031410

NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)

SNV
Germline

Chr7:117590400

Conflicting classifications of pathogenicity

Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
not specified
Lung disease, non-specific
Chronic sinusitis
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA182838

rs_1800098

24 SubmittersRCV000007585 RCV000029486 RCV000078981 RCV000155472 RCV000584175 RCV000582695 RCV001009484 RCV005031411

NM_000492.3(CFTR):c.3718-2477C>T

SNV
Germline

Chr7:117639961

Pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
not specified

Practice Guideline

CA249893

rs_75039782

29 SubmittersRCV000007586 RCV000727872 RCV000763159 RCV001009390 RCV001826438 RCV002257359 RCV000507372

NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met)

SNV
Germline

Chr7:117642568

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA325559

rs_77902683

3 SubmittersRCV000007587 RCV001831542

NM_000492.4(CFTR):c.1766+1G>A

SNV
Germline

Chr7:117590440

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA340648

rs_121908748

21 SubmittersRCV000007588 RCV002496300 RCV000985681 RCV001004273 RCV001027908 RCV003473031

NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)

SNV
Germline

Chr7:117540305

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA353709

rs_76879328

3 SubmittersRCV001293471 RCV002415404 RCV002247262

NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)

SNV
Germline

Chr7:117540270

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325561

rs_77932196

7 SubmittersRCV000007591 RCV001004252 RCV003466829 RCV005031412

NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter)

SNV
Germline

Chr7:117592313

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA254113

rs_121909023

1 SubmittersRCV000007594

NM_000492.4(CFTR):c.2490+1G>A

SNV
Germline

Chr7:117592658

Pathogenic

Cystic fibrosis
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis

Reviewed By Expert Panel

CA340649

rs_141158996

13 SubmittersRCV000007595 RCV001826439 RCV001509317 RCV005031413

NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)

SNV
Germline

Chr7:117627765

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA325566

rs_121908766

4 SubmittersRCV000007596

NM_000492.4(CFTR):c.3718-1G>A

SNV
Germline

Chr7:117642437

Pathogenic

Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA325568

rs_387906369

7 SubmittersRCV000007597 RCV001831544 RCV003996079

NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)

SNV
Germline

Chr7:117509040

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA325570

rs_121909025

7 SubmittersRCV000007599 RCV001826440

NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)

SNV
Germline

Chr7:117652905

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA340650

rs_121909026

9 SubmittersRCV000007600 RCV001826441 RCV003473032

NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)

SNV
Germline

Chr7:117530899

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325572

rs_121908751

13 SubmittersRCV000007601 RCV001093484 RCV001009395 RCV001831545 RCV003473033

NM_000492.4(CFTR):c.1040G>A (p.Arg347His)

SNV
Germline

Chr7:117540270

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA340652

rs_77932196

20 SubmittersRCV000007602 RCV000224726 RCV001009366 RCV001027909 RCV001004250 RCV003473034 RCV005042005

NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)

SNV
Germline

Chr7:117509140

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325573

rs_121908750

6 SubmittersRCV000007603 RCV001831546 RCV004566691

NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser)

SNV
Germline

Chr7:117642577

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA325574

rs_121909028

1 SubmittersRCV000007604

NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)

SNV
Germline

Chr7:117530899

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325576

rs_121908751

12 SubmittersRCV000007606 RCV001004423 RCV001009515 RCV001826443 RCV003473036

NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)

SNV
Germline

Chr7:117559509

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA221007

rs_79282516

9 SubmittersRCV000007607 RCV000790782 RCV001004453 RCV004566692

NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)

SNV
Germline

Chr7:117535285

Pathogenic; drug response

Cystic fibrosis
Condition: not provided
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
ivacaftor response - Efficacy
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA221035

rs_121908752

28 SubmittersRCV000007611 RCV000079011 RCV000763156 RCV000660772 RCV001004443 RCV001009388 RCV001831547 RCV003473037

NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)

SNV
Germline

Chr7:117642483

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Hereditary pancreatitis

Reviewed By Expert Panel

CA325580

rs_121909041

9 SubmittersRCV000007613 RCV001787320 RCV002247264

NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)

SNV
Germline

Chr7:117540243

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

CA325581

rs_77409459

15 SubmittersRCV000007614 RCV001009472 RCV001269654 RCV003473038 RCV000506655 RCV005042006

NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)

SNV
Germline

Chr7:117611707

Pathogenic

Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Reviewed By Expert Panel

CA340653

rs_78802634

16 SubmittersRCV000507617 RCV000763581 RCV000007615 RCV001004304 RCV003473039 RCV001027902

NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)

SNV
Germline

Chr7:117530951

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325582

rs_121909031

5 SubmittersRCV000007618 RCV003473040

NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)

SNV
Germline

Chr7:117540285

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325583

rs_121908753

18 SubmittersRCV000007619 RCV000660773 RCV000763568 RCV001004254 RCV000985669 RCV001826444 RCV003473041

NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)

SNV
Germline

Chr7:117587808

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325585

rs_76554633

10 SubmittersRCV000007622 RCV001826445 RCV003473042

NM_000492.4(CFTR):c.1943A>T (p.Asp648Val)

SNV
Germline

Chr7:117592110

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA325587

rs_121909033

1 SubmittersRCV000007623

NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)

SNV
Germline

Chr7:117592295

Pathogenic

Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325588

rs_75115087

11 SubmittersRCV000759034 RCV000007624 RCV001004470 RCV001826446 RCV003473043

NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)

SNV
Germline

Chr7:117603542

Pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis

Reviewed By Expert Panel

CA325590

rs_79633941

14 SubmittersRCV000007625 RCV000505859 RCV003473044 RCV001831549 RCV005042007

NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)

SNV
Germline

Chr7:117611635

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Reviewed By Expert Panel

CA325596

rs_121909036

10 SubmittersRCV000007629 RCV000311326 RCV001831550 RCV001004297

NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)

SNV
Germline

Chr7:117611653

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA325597

rs_121909037

1 SubmittersRCV000007630

NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)

SNV
Germline

Chr7:117611695

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA325598

rs_79635528

6 SubmittersRCV000007631

NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)

SNV
Germline

Chr7:117611717

Pathogenic

not specified
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA269811

rs_121908761

6 SubmittersRCV000780122 RCV001009514 RCV001831551 RCV000056380

NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)

SNV
Germline

Chr7:117627664

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA325599

rs_121908764

7 SubmittersRCV000007633 RCV001831552

NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)

SNV
Germline

Chr7:117627712

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA254115

rs_1800123

14 SubmittersRCV000007635 RCV000589624 RCV004528090 RCV003230350

NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)

SNV
Germline

Chr7:117627753

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325601

rs_75389940

16 SubmittersRCV000007636 RCV001269696 RCV001831553 RCV004566693

NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)

SNV
Germline

Chr7:117642466

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA325602

rs_121909040

6 SubmittersRCV000007637

NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)

SNV
Germline

Chr7:117642472

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325603

rs_74503330

16 SubmittersRCV000007638 RCV000211301 RCV000506301 RCV001826447 RCV003466832

NM_000492.4(CFTR):c.3907A>C (p.Asn1303His)

SNV
Germline

Chr7:117652875

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA325604

rs_121909042

1 SubmittersRCV000007639

NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)

SNV
Germline

Chr7:117667029

Pathogenic/Likely pathogenic

Sweat chloride elevation without cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Respiratory ciliopathies including non-CF bronchiectasis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118642

rs_121909043

10 SubmittersRCV000007644 RCV001004310 RCV000590108 RCV003473045 RCV001826450 RCV005031414 RCV005430922 RCV001781201

NM_000492.3(CFTR):c.-102A=

SNV
Germline

Chr7:117479993

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

rs_1797973431

1 SubmittersRCV000007647

NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)

SNV
Germline

Chr7:117610521

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Pancreatitis
CFTR-related disorder
Infertility disorder
Obstructive azoospermia
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA090907

rs_1800111

29 SubmittersRCV000007650 RCV000007651 RCV000046745 RCV000078991 RCV000243402 RCV000583195 RCV001009470 RCV001327946 RCV001642202 RCV005031415

NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr7:117480113

Pathogenic

Cystic fibrosis
Condition: not provided

Criteria Provided
Single Submitter

CA325613

rs_121909045

2 SubmittersRCV000007657 RCV000278439

NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)

SNV
Germline

Chr7:117664780

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA325616

rs_113857788

17 SubmittersRCV000007659 RCV000586028 RCV005031417 RCV001009487 RCV001375489

NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)

SNV
Germline

Chr7:117535318

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA254120

rs_121909046

20 SubmittersRCV000007660 RCV000506350 RCV000586415 RCV001095295

NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)

SNV
Germline

Chr7:117642451

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327266

rs_267606723

2 SubmittersRCV000577733

NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)

SNV
Germline

Chr7:117590355

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325617

rs_121909047

11 SubmittersRCV000007662 RCV000759032 RCV001826451 RCV001004265 RCV003473050

NM_000492.4(CFTR):c.2988+1G>A

SNV
Germline

Chr7:117606754

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA221018

rs_75096551

28 SubmittersRCV000007645 RCV000759761 RCV001027899 RCV000763580 RCV001004285 RCV003473046

NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)

SNV
Germline

Chr7:117540309

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA353710

rs_75053309

2 SubmittersRCV002420286 RCV001293472

NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)

SNV
Germline

Chr7:117540284

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA325686

rs_193922497

12 SubmittersRCV000029469 RCV000727191 RCV004532406 RCV005229828

NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)

SNV
Germline

Chr7:117504313

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA260211

rs_193922498

3 SubmittersRCV000029470

NM_000492.4(CFTR):c.1365G>A (p.Ala455=)

SNV
Germline

Chr7:117548796

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA260214

rs_79074685

13 SubmittersRCV000245016 RCV000588680 RCV001085484 RCV001161865 RCV001588827 RCV002256002

NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)

SNV
Germline

Chr7:117548798

Pathogenic

Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Reviewed By Expert Panel

CA325689

rs_193922500

26 SubmittersRCV000029474 RCV000731635 RCV000763570 RCV001001125 RCV001004447 RCV001009542 RCV001331274 RCV003473123 RCV004734530

NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)

SNV
Germline

Chr7:117559468

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder
Obstructive azoospermia

Reviewed By Expert Panel

CA342833

rs_121908805

20 SubmittersRCV000029475 RCV000724154 RCV001004451 RCV003473124 RCV005042089 RCV001826510 RCV001642234

NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)

SNV
Germline

Chr7:117559471

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA342834

rs_139573311

12 SubmittersRCV000029476 RCV000724155 RCV001004452 RCV001831607 RCV002477011 RCV003473125

NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)

SNV
Germline

Chr7:117480108

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA325691

rs_193922501

17 SubmittersRCV000029477 RCV001004225 RCV000727666 RCV002284179 RCV003473126 RCV004734531 RCV005031456

NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)

SNV
Germline

Chr7:117559629

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
CFTR-related disorder
Hereditary pancreatitis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA221008

rs_77646904

19 SubmittersRCV000046339 RCV000589201 RCV000855641 RCV001163392 RCV002247397 RCV005031457

NM_000492.4(CFTR):c.1584+12T>C

SNV
Germline

Chr7:117559667

Conflicting classifications of pathogenicity

not specified
Condition: not provided
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA325693

rs_193922502

8 SubmittersRCV000250540 RCV000985676 RCV001163393 RCV001414754

NM_000492.4(CFTR):c.1585-8G>A

SNV
Germline

Chr7:117587731

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA342836

rs_193922503

11 SubmittersRCV000029481 RCV000759756 RCV001826511 RCV003473127

NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)

SNV
Germline

Chr7:117587827

Pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA325694

rs_193922504

10 SubmittersRCV000029483 RCV001811199 RCV003473128 RCV005031458

NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)

SNV
Germline

Chr7:117590357

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary pancreatitis
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA240027

rs_1800097

14 SubmittersRCV000587283 RCV001526855 RCV002256003 RCV000029484 RCV001163395

NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)

SNV
Germline

Chr7:117590404

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA325696

rs_55928397

11 SubmittersRCV000029487 RCV001508586 RCV001420715 RCV003466875

NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)

SNV
Germline

Chr7:117592032

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326704

rs_121908759

22 SubmittersRCV000046498 RCV000506455 RCV000763577 RCV001588828 RCV001004277 RCV002256004 RCV001009381 RCV003473129 RCV002228058

NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)

SNV
Germline

Chr7:117592169

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Lung disease, non-specific
Chronic sinusitis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA182840

rs_1800100

25 SubmittersRCV000029490 RCV000155473 RCV000515296 RCV000583839 RCV000582625 RCV000723382 RCV001009490 RCV002256005

NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)

SNV
Germline

Chr7:117509093

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Hereditary pancreatitis
Condition: not provided
Lung disease, non-specific
CFTR-related disorder
Abnormality of the pancreas

Criteria Provided
Conflicting Classifications

CA152327

rs_1800076

22 SubmittersRCV000029494 RCV000116686 RCV000119039 RCV000513754 RCV000582582 RCV001095213 RCV001249413

NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)

SNV
Germline

Chr7:117592588

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA260217

rs_1800103

19 SubmittersRCV000197986 RCV000313144 RCV000515401 RCV000725433 RCV001009483 RCV002257361

NM_000492.4(CFTR):c.2620-15C>G

SNV
Germline

Chr7:117602811

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA260218

rs_139379077

15 SubmittersRCV000029499 RCV000244736 RCV000759758 RCV001158764 RCV002257362

NM_000492.4(CFTR):c.273+3A>C

SNV
Germline

Chr7:117509145

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA325701

rs_74467662

7 SubmittersRCV000029501 RCV001004421 RCV003473133 RCV003482230

NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)

SNV
Germline

Chr7:117603642

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA260222

rs_193922509

1 SubmittersRCV000029503

NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)

SNV
Germline

Chr7:117603687

Conflicting classifications of pathogenicity

Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA260225

rs_193922511

8 SubmittersRCV000029505 RCV000506921 RCV000730038 RCV001378467 RCV002284180

NM_000492.4(CFTR):c.2835G>A (p.Ser945=)

SNV
Germline

Chr7:117603709

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA260229

rs_193922513

6 SubmittersRCV000029507 RCV001160120 RCV001175334

NM_000492.4(CFTR):c.2898G>A (p.Thr966=)

SNV
Germline

Chr7:117603772

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179875

rs_1800109

18 SubmittersRCV000029508 RCV000152996 RCV001095179 RCV001529602

NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)

SNV
Germline

Chr7:117606674

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA326964

rs_386134230

14 SubmittersRCV000046718 RCV001004490 RCV001781321 RCV002228059 RCV003473135 RCV005042091

NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)

SNV
Germline

Chr7:117606697

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325702

rs_193922514

5 SubmittersRCV000029510 RCV003473136

NM_000492.4(CFTR):c.2988G>A (p.Gln996=)

SNV
Germline

Chr7:117606753

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA221019

rs_121908797

14 SubmittersRCV000029512 RCV000790775 RCV001004284 RCV001831609 RCV003473137

NM_000492.4(CFTR):c.2989-2A>T

SNV
Germline

Chr7:117610517

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325704

rs_193922515

3 SubmittersRCV000029513 RCV003466876

NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)

SNV
Germline

Chr7:117610568

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260231

rs_193922516

9 SubmittersRCV001835638 RCV002482910 RCV001241203 RCV001811200

NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)

SNV
Germline

Chr7:117610610

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA146697

rs_1800112

15 SubmittersRCV000029515 RCV000078993 RCV000224628 RCV001163494

NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)

SNV
Germline

Chr7:117610625

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Condition: not provided
Cystic fibrosis
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
Hereditary pancreatitis
Obstructive azoospermia
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA325705

rs_144055758

14 SubmittersRCV000029516 RCV001009474 RCV000591587 RCV001004290 RCV005042092 RCV001642235 RCV003473138

NM_000492.4(CFTR):c.3139+8A>G

SNV
Germline

Chr7:117610677

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA260234

rs_193922517

6 SubmittersRCV000029518 RCV003114205 RCV004532408 RCV005406761

NM_000492.4(CFTR):c.3140-26A>G

SNV
Germline

Chr7:117611555

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA342838

rs_76151804

23 SubmittersRCV000029519 RCV000724157 RCV001004294 RCV001009368 RCV003473139 RCV001831610 RCV002482911

NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)

SNV
Germline

Chr7:117627611

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA260235

rs_1800121

14 SubmittersRCV000029524 RCV000253655 RCV000726703 RCV001163787

NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)

SNV
Germline

Chr7:117627758

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder
Obstructive azoospermia
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA090908

rs_34911792

20 SubmittersRCV000029527 RCV000079000 RCV000755234 RCV001163789 RCV001642238 RCV001801912 RCV003333727

NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)

SNV
Germline

Chr7:117530995

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA260239

rs_193922519

1 SubmittersRCV000029528

NM_000492.4(CFTR):c.3717+5G>A

SNV
Germline

Chr7:117627775

Pathogenic

Cystic fibrosis
Cystic fibrosis
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
Hereditary pancreatitis
CFTR-related disorder

Reviewed By Expert Panel

CA260242

rs_193922520

8 SubmittersRCV000029530 RCV001004503 RCV002496446 RCV004724756

NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)

SNV
Germline

Chr7:117664721

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA260246

rs_193922524

1 SubmittersRCV000029535

NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)

SNV
Germline

Chr7:117664770

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
CFTR-related disorder
Hereditary pancreatitis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325711

rs_193922525

11 SubmittersRCV000029536 RCV000211255 RCV001826515 RCV002247398 RCV002477013 RCV003473145

NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)

SNV
Germline

Chr7:117664780

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
Hereditary pancreatitis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA260248

rs_113857788

8 SubmittersRCV000029537 RCV000757090 RCV000808411 RCV002256007 RCV004532409

NM_000492.4(CFTR):c.4242+2T>C

SNV
Germline

Chr7:117665566

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA260252

rs_193922526

4 SubmittersRCV000029539

NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)

SNV
Germline

Chr7:117666945

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA260254

rs_193922528

1 SubmittersRCV000029541

NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)

SNV
Germline

Chr7:117536629

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA325712

rs_193922532

9 SubmittersRCV000029545 RCV001004239 RCV001831612 RCV003473146

NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)

SNV
Germline

Chr7:117536657

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Hereditary pancreatitis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325714

rs_151073129

12 SubmittersRCV000029547 RCV000598331 RCV002257363 RCV004532410 RCV002477014 RCV002477015

NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)

SNV
Germline

Chr7:117504290

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA325716

rs_1800073

19 SubmittersRCV000029548 RCV000251973 RCV000515170 RCV000723380 RCV001161749 RCV001801914 RCV003387730

NM_000492.4(CFTR):c.958T>G (p.Leu320Val)

SNV
Germline

Chr7:117540188

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA325718

rs_144476686

16 SubmittersRCV000029549 RCV001526859 RCV000590210 RCV001801915 RCV001588829 RCV001165382 RCV003473147 RCV005042095

NM_000492.4(CFTR):c.489+1G>T

SNV
Germline

Chr7:117531115

Pathogenic

Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA344708

rs_78756941

29 SubmittersRCV000043565 RCV000657900 RCV000763152 RCV001027898 RCV001004431 RCV002288527 RCV003473246

NM_000492.4(CFTR):c.579+1G>T

SNV
Germline

Chr7:117534366

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Practice Guideline

CA344709

rs_77188391

15 SubmittersRCV000043566 RCV001004437 RCV000780140 RCV000723838 RCV001826530 RCV003473240

NM_000492.4(CFTR):c.2657+5G>A

SNV
Germline

Chr7:117602868

Pathogenic

Cystic fibrosis
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Respiratory ciliopathies including non-CF bronchiectasis

Practice Guideline

CA344707

rs_80224560

33 SubmittersRCV000043564 RCV000487256 RCV000507493 RCV000763579 RCV001004484 RCV001009372 RCV001835639 RCV003473241 RCV002257369 RCV005416027

NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)

SNV
Germline

Chr7:117611717

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Condition: not provided
not specified
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA269813

rs_121908761

20 SubmittersRCV000056379 RCV000763157 RCV001004305 RCV001831621 RCV000522700 RCV000781257 RCV003473243

NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)

SNV
Germline

Chr7:117509047

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328091

rs_77284892

16 SubmittersRCV000056355 RCV001528716 RCV001004229 RCV000763147 RCV001826532 RCV003473244

NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)

SNV
Germline

Chr7:117587799

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
CFTR-related disorder
Condition: not provided
not specified
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA254108

rs_121908757

11 SubmittersRCV000043664 RCV000211346 RCV001826533 RCV003476914 RCV000781222 RCV002247407 RCV001004464 RCV003466883

NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)

SNV
Germline

Chr7:117530991

Pathogenic

Cystic fibrosis
CFTR-related disorder
Condition: not provided

Reviewed By Expert Panel

CA328118

rs_79660178

7 SubmittersRCV000056385 RCV001831622 RCV001529907

NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)

SNV
Germline

Chr7:117531068

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146708

rs_35516286

17 SubmittersRCV000047138 RCV000079009 RCV001095251 RCV001705619

NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)

SNV
Germline

Chr7:117611743

Pathogenic

Cystic fibrosis
not specified
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA221025

rs_36210737

17 SubmittersRCV000032712 RCV000781258 RCV000757078 RCV001004494 RCV001831623 RCV002496491 RCV003466886

NM_000492.4(CFTR):c.1584G>A (p.Glu528=)

SNV
Germline

Chr7:117559655

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Cystic fibrosis
Condition: not provided
Pancreatitis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA132749

rs_1800095

21 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847 RCV005416110

NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)

SNV
Germline

Chr7:117509092

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis

Reviewed By Expert Panel

CA328098

rs_121908749

19 SubmittersRCV000056362 RCV001831710 RCV003473290 RCV001004232 RCV001284476 RCV005031482

NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)

SNV
Germline

Chr7:117627640

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder
Condition: not provided

Reviewed By Expert Panel

CA328116

rs_121908763

10 SubmittersRCV000056383 RCV003473291 RCV002490585 RCV001831711 RCV004998133

NM_000492.4(CFTR):c.274-1G>A

SNV
Germline

Chr7:117530898

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
CFTR-related disorder

Reviewed By Expert Panel

CA345313

rs_121908792

11 SubmittersRCV000056370 RCV000224434 RCV000763148 RCV001004422 RCV003473292 RCV001831712

NM_000492.4(CFTR):c.1680-1G>A

SNV
Germline

Chr7:117590352

Pathogenic

Cystic fibrosis
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA328089

rs_121908794

15 SubmittersRCV000056352 RCV001826602 RCV000985679 RCV003473293 RCV001004264

NM_000492.4(CFTR):c.1766+5G>T

SNV
Germline

Chr7:117590444

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326663

rs_121908796

17 SubmittersRCV001004274 RCV000046468 RCV003473294 RCV004537158 RCV001528994 RCV004795959

NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)

SNV
Germline

Chr7:117530974

Pathogenic; drug response

Cystic fibrosis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
ivacaftor response - Efficacy
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328115

rs_77834169

24 SubmittersRCV000056382 RCV000763150 RCV000727627 RCV001004428 RCV001009394 RCV001826603 RCV003227627 RCV003473295

NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)

SNV
Germline

Chr7:117534318

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
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
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA328125

rs_80282562

16 SubmittersRCV000056394 RCV000211246 RCV000763153 RCV001004435 RCV000508034 RCV001831713 RCV003473296 RCV002247425

NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)

SNV
Germline

Chr7:117540218

Pathogenic

Cystic fibrosis
Inborn genetic diseases
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA328133

rs_79031340

10 SubmittersRCV000056402 RCV000623802 RCV000760400 RCV000780126 RCV001004245 RCV001826604 RCV003473299 RCV005042122

NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro)

SNV
Germline

Chr7:117540320

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326399

rs_78909279

1 SubmittersRCV004767035

NM_000492.4(CFTR):c.-812T>G

SNV
Germline

Chr7:117479283

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325803

rs_181008242

8 SubmittersRCV000043698 RCV000507401 RCV001281708

NM_000492.4(CFTR):c.-226G>T

SNV
Germline

Chr7:117479869

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325805

rs_73717525

7 SubmittersRCV000043700 RCV000727142

NM_000492.4(CFTR):c.*2G>A

SNV
Germline

Chr7:117667110

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA242756

rs_150914702

10 SubmittersRCV000176720 RCV001002168 RCV001409872 RCV004734602

NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)

SNV
Germline

Chr7:117540231

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA326358

rs_397508137

19 SubmittersRCV000046192 RCV000587058 RCV001165384 RCV002281546 RCV003473439 RCV005364934 RCV005031485

NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)

SNV
Germline

Chr7:117540231

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326360

rs_397508137

12 SubmittersRCV000577441 RCV001811317 RCV002281547 RCV004537221 RCV004566862

NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)

SNV
Germline

Chr7:117540237

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA345302

rs_397508139

14 SubmittersRCV000056337 RCV000593715 RCV001826607 RCV001004247 RCV003473440

NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)

SNV
Germline

Chr7:117540251

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

CA328077

rs_397508144

12 SubmittersRCV000056338 RCV000724655 RCV002496707 RCV001004248 RCV003473441

NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)

SNV
Germline

Chr7:117540267

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA326372

rs_397508146

4 SubmittersRCV000576945

NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)

SNV
Germline

Chr7:117540269

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326373

rs_397508147

8 SubmittersRCV000577686 RCV000729383 RCV000780155 RCV002247432

NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)

SNV
Germline

Chr7:117540273

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326375

rs_142920240

13 SubmittersRCV000046210 RCV000781246 RCV000339107 RCV004537222

NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)

SNV
Germline

Chr7:117540282

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA326377

rs_1800086

14 SubmittersRCV000046212 RCV000588868 RCV001158654 RCV002265581

NM_000492.4(CFTR):c.1057C>T (p.Gln353Ter)

SNV
Germline

Chr7:117540287

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326379

rs_397508148

2 SubmittersRCV001009439

NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)

SNV
Unknown

Chr7:117540298

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA326384

rs_397508150

2 SubmittersRCV002284592 RCV003475329

NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)

SNV
Germline

Chr7:117540311

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326395

rs_397508154

5 SubmittersRCV001009436 RCV001831717

NM_000492.4(CFTR):c.1116+1G>A

SNV
Germline

Chr7:117540347

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328079

rs_397508158

10 SubmittersRCV000056340 RCV001004255 RCV001027907 RCV003473444

NM_000492.4(CFTR):c.1116+1G>C

SNV
Germline

Chr7:117540347

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326406

rs_397508158

2 SubmittersRCV000577091

NM_000492.4(CFTR):c.1117-5A>G

SNV
Germline

Chr7:117542011

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326409

rs_397508161

2 SubmittersRCV001009374 RCV002284358

NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)

SNV
Germline

Chr7:117542024

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA326410

rs_73215912

10 SubmittersRCV000577124 RCV001192399 RCV005229866 RCV003473445

NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)

SNV
Germline

Chr7:117542034

Pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326415

rs_397508165

8 SubmittersRCV000665109 RCV001283961 RCV003466898

NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)

SNV
Germline

Chr7:117504314

Pathogenic

Cystic fibrosis
CFTR-related disorder
not specified
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA345303

rs_397508168

10 SubmittersRCV000056342 RCV001831718 RCV000781224 RCV003473446 RCV004808568

NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)

SNV
Germline

Chr7:117542074

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326424

rs_397508170

7 SubmittersRCV000577118

NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)

SNV
Germline

Chr7:117480105

Pathogenic

Cystic fibrosis
not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326431

rs_397508173

11 SubmittersRCV000046255 RCV000780154 RCV001027911 RCV003473447

NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter)

SNV
Germline

Chr7:117542101

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA328081

rs_397508174

3 SubmittersRCV000056343 RCV001831720

NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)

SNV
Germline

Chr7:117542102

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA328083

rs_397508175

5 SubmittersRCV000056344 RCV001831721

NM_000492.4(CFTR):c.1209+1G>A

SNV
Germline

Chr7:117542109

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA328084

rs_397508176

6 SubmittersRCV000056345 RCV001831722

NM_000492.4(CFTR):c.1209G>A (p.Glu403=)

SNV
Germline

Chr7:117542108

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326433

rs_397508177

3 SubmittersRCV000577812

NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)

SNV
Germline

Chr7:117542108

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326435

rs_397508177

3 SubmittersRCV000577449

NM_000492.4(CFTR):c.1210-1G>C

SNV
Germline

Chr7:117548640

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326437

rs_397508178

2 SubmittersRCV000576959

NM_000492.4(CFTR):c.1210-2A>C

SNV
Germline

Chr7:117548639

Pathogenic

not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA326438

rs_397508179

8 SubmittersRCV001001372 RCV001004258 RCV002277135 RCV001826608 RCV001193108

NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr7:117548671

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA326443

rs_397508183

9 SubmittersRCV000046266 RCV001093486 RCV001831724

NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)

SNV
Germline

Chr7:117548746

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326449

rs_397508187

8 SubmittersRCV000046271 RCV003473448 RCV003476940

NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)

SNV
Germline

Chr7:117504330

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326451

rs_1800074

2 SubmittersRCV000577104

NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)

SNV
Germline

Chr7:117548753

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326452

rs_397508188

4 SubmittersRCV000577476 RCV005042127

NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)

SNV
Germline

Chr7:117548758

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA175540

rs_147422190

23 SubmittersRCV000046274 RCV000078976 RCV000150335 RCV001004444 RCV001009469 RCV002256030 RCV003473449 RCV005031486

NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)

SNV
Germline

Chr7:117548797

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326460

rs_397508195

4 SubmittersRCV000577746 RCV005031487

NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)

SNV
Germline

Chr7:117504336

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA326462

rs_151020603

5 SubmittersRCV000046286

NM_000492.4(CFTR):c.1392+1G>A

SNV
Germline

Chr7:117548824

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326464

rs_397508197

4 SubmittersRCV001007592

NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)

SNV
Germline

Chr7:117548823

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA326465

rs_397508198

5 SubmittersRCV001009443 RCV001357911 RCV001197496

NM_000492.4(CFTR):c.1393-1G>A

SNV
Germline

Chr7:117559463

Pathogenic

Cystic fibrosis
not specified
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA345305

rs_397508200

15 SubmittersRCV000056347 RCV000506518 RCV000506225 RCV001004449 RCV001831726 RCV003473452 RCV005229867

NM_000492.4(CFTR):c.1393-2A>G

SNV
Germline

Chr7:117559462

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326468

rs_397508201

7 SubmittersRCV000046291 RCV001826609

NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)

SNV
Germline

Chr7:117559468

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder

Reviewed By Expert Panel

CA328085

rs_121908805

3 SubmittersRCV000056348 RCV001009519 RCV001826610

NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)

SNV
Germline

Chr7:117559468

Conflicting classifications of pathogenicity

Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326469

rs_121908805

5 SubmittersRCV001192400 RCV002496708 RCV003473453 RCV002390195

NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)

SNV
Germline

Chr7:117559470

Conflicting classifications of pathogenicity

CFTR-related disorder
Condition: not provided
Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA326471

rs_1800089

14 SubmittersRCV004734603 RCV000588804 RCV000577709 RCV001824591 RCV003884342

NM_000492.4(CFTR):c.1405A>G (p.Met469Val)

SNV
Germline

Chr7:117559476

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA326475

rs_397508203

5 SubmittersRCV000577569 RCV001009537 RCV002288549

NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter)

SNV
Germline

Chr7:117559506

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326482

rs_397508207

1 SubmittersRCV002394265

NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)

SNV
Germline

Chr7:117559509

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326484

rs_79282516

9 SubmittersRCV000577421 RCV001826611 RCV001753465

NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp)

SNV
Germline

Chr7:117559510

Pathogenic/Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326486

rs_397508208

3 SubmittersRCV003473455 RCV001507709 RCV004767041

NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)

SNV
Germline

Chr7:117559537

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA328087

rs_397508211

12 SubmittersRCV000056349 RCV001528800 RCV001831728 RCV003473456 RCV005042128

NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg)

SNV
Germline

Chr7:117559542

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA326494

rs_397508213

1 SubmittersRCV001009387

NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)

SNV
Germline

Chr7:117559549

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326498

rs_397508214

2 SubmittersRCV000577263

NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)

SNV
Germline

Chr7:117559558

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326501

rs_397508216

6 SubmittersRCV000576357 RCV001826612

NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)

SNV
Germline

Chr7:117504347

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326503

rs_397508217

2 SubmittersRCV000046319

NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)

SNV
Germline

Chr7:117504348

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA326509

rs_397508220

7 SubmittersRCV000577356 RCV001194310 RCV001831729 RCV002490610

NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)

SNV
Germline

Chr7:117559572

Pathogenic/Likely 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
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326510

rs_397508221

5 SubmittersRCV000577075 RCV005031488 RCV002281548

NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)

SNV
Germline

Chr7:117559576

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326512

rs_397508222

3 SubmittersRCV000856672 RCV001283967

NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)

SNV
Germline

Chr7:117559576

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326514

rs_397508222

8 SubmittersRCV000577239 RCV003473457

NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)

SNV
Germline

Chr7:117559581

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA326517

rs_397508223

4 SubmittersRCV000757811 RCV001826613

NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)

SNV
Germline

Chr7:117559587

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA326519

rs_1800091

8 SubmittersRCV001004457 RCV000577685 RCV001269698 RCV003473458

NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)

SNV
Germline

Chr7:117559588

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA326521

rs_397508224

12 SubmittersRCV000046330 RCV000727671 RCV005031489

NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)

SNV
Germline

Chr7:117559588

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA326523

rs_397508224

3 SubmittersRCV000577616 RCV003226178

NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)

SNV
Germline

Chr7:117559589

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA326525

rs_1800092

5 SubmittersRCV000046332 RCV001844024

NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)

SNV
Germline

Chr7:117559609

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326529

rs_397508225

7 SubmittersRCV001009541 RCV000577027 RCV004566863

NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)

SNV
Germline

Chr7:117559617

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA326530

rs_397508226

3 SubmittersRCV001756583 RCV002405289 RCV003331194

NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr7:117559644

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326532

rs_397508227

6 SubmittersRCV000046342 RCV001826614

NM_000492.4(CFTR):c.1585-9412A>G

SNV
Germline

Chr7:117578327

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326536

rs_397508229

6 SubmittersRCV000577289

NM_000492.4(CFTR):c.1584+1G>A

SNV
Germline

Chr7:117559656

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326537

rs_397508230

5 SubmittersRCV000576560 RCV001831730

NM_000492.4(CFTR):c.1584+1G>T

SNV
Germline

Chr7:117559656

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326538

rs_397508230

1 SubmittersRCV001377419

NM_000492.4(CFTR):c.1584+2T>C

SNV
Germline

Chr7:117559657

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA326539

rs_397508231

3 SubmittersRCV001009440 RCV004566864

NM_000492.4(CFTR):c.1585-2A>G

SNV
Germline

Chr7:117587737

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA326543

rs_397508233

6 SubmittersRCV000577663 RCV001835654

NM_000492.4(CFTR):c.164+12T>C

SNV
Germline

Chr7:117504375

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326561

rs_121908790

11 SubmittersRCV000855588 RCV000590024 RCV000577399 RCV004537223

NM_000492.4(CFTR):c.164+1G>A

SNV
Germline

Chr7:117504364

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326562

rs_397508243

5 SubmittersRCV000046367 RCV001826615 RCV004566865

NM_000492.4(CFTR):c.164+1G>C

SNV
Germline

Chr7:117504364

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA326563

rs_397508243

4 SubmittersRCV000577757 RCV003466899

NM_000492.4(CFTR):c.164+1G>T

SNV
Germline

Chr7:117504364

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326564

rs_397508243

8 SubmittersRCV000576651 RCV003473459

NM_000492.4(CFTR):c.164+2T>C

SNV
Germline

Chr7:117504365

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326565

rs_121908800

5 SubmittersRCV000577099 RCV001831731 RCV004795979

NM_000492.4(CFTR):c.164+9A>T

SNV
Germline

Chr7:117504372

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326568

rs_397508245

6 SubmittersRCV000576924 RCV001588870 RCV001264463 RCV004537224

NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)

SNV
Germline

Chr7:117587802

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326572

rs_397508247

5 SubmittersRCV000046380 RCV001826616

NM_000492.4(CFTR):c.165-1G>A

SNV
Germline

Chr7:117509033

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA326575

rs_397508249

9 SubmittersRCV000046382 RCV000280788 RCV001826617

NM_000492.4(CFTR):c.165-2A>G

SNV
Germline

Chr7:117509032

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326576

rs_397508250

4 SubmittersRCV001009517 RCV002284359

NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)

SNV
Germline

Chr7:117509035

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326588

rs_397508256

9 SubmittersRCV000046399 RCV000660826 RCV001004228 RCV001009396 RCV003480043 RCV003473461

NM_000492.4(CFTR):c.1680-877G>T

SNV
Germline

Chr7:117589476

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326598

rs_397508261

10 SubmittersRCV000046407 RCV000759031 RCV004537225 RCV003473462

NM_000492.4(CFTR):c.1679+16T>C

SNV
Germline

Chr7:117587849

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA326599

rs_397508262

4 SubmittersRCV000668354 RCV000781262 RCV001588871

NM_000492.4(CFTR):c.1679+18G>A

SNV
Germline

Chr7:117587851

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified

Criteria Provided
Conflicting Classifications

CA326600

rs_369294289

5 SubmittersRCV000668835 RCV001588872 RCV005237477

NM_000492.4(CFTR):c.1679+1G>C

SNV
Germline

Chr7:117587834

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326601

rs_397508263

4 SubmittersRCV000046411 RCV001826620

NM_000492.4(CFTR):c.1680-886A>G

SNV
Germline

Chr7:117589467

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326604

rs_397508266

16 SubmittersRCV000046417 RCV000763576 RCV001027897 RCV000724668 RCV000781239 RCV001004263

NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)

SNV
Germline

Chr7:117590353

Pathogenic

Cystic fibrosis
Condition: not provided

Reviewed By Expert Panel

CA326605

rs_397508267

9 SubmittersRCV000576677 RCV004700330

NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)

SNV
Germline

Chr7:117590360

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA326608

rs_121909006

3 SubmittersRCV000577631

NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)

SNV
Germline

Chr7:117590367

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA326611

rs_397508270

7 SubmittersRCV000576976 RCV001009513 RCV001588873 RCV001831733 RCV002469000

NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)

SNV
Germline

Chr7:117509038

Pathogenic/Likely pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326615

rs_397508272

7 SubmittersRCV001269511 RCV000577294

NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)

SNV
Germline

Chr7:117509038

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA326617

rs_397508272

10 SubmittersRCV000577563 RCV004537226 RCV003473463 RCV003114230

NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)

SNV
Germline

Chr7:117590376

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA326618

rs_397508273

5 SubmittersRCV000046430 RCV004566867

NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)

SNV
Germline

Chr7:117590378

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA326623

rs_397508276

4 SubmittersRCV000577252 RCV000985680

NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)

SNV
Germline

Chr7:117590378

Pathogenic

Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis

Reviewed By Expert Panel

CA326624

rs_397508276

14 SubmittersRCV000046434 RCV000780130 RCV001004268 RCV001269564 RCV001826622 RCV003473464 RCV005031491

NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)

SNV
Germline

Chr7:117590379

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326625

rs_397508277

2 SubmittersRCV000577599

NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)

SNV
Germline

Chr7:117590380

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326626

rs_397508278

2 SubmittersRCV000577826

NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)

SNV
Germline

Chr7:117509039

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder

Reviewed By Expert Panel

CA326628

rs_397508279

7 SubmittersRCV000046437 RCV001009511 RCV001826623

NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)

SNV
Germline

Chr7:117590385

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326629

rs_397508280

6 SubmittersRCV000577164 RCV001835655

NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)

SNV
Germline

Chr7:117590387

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326631

rs_397508282

3 SubmittersRCV000577056

NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)

SNV
Germline

Chr7:117590393

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326632

rs_397508283

2 SubmittersRCV000577818

NM_000492.4(CFTR):c.172G>A (p.Asp58Asn)

SNV
Germline

Chr7:117509041

Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Single Submitter

CA326636

rs_397508285

2 SubmittersRCV000577317 RCV005237478

NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)

SNV
Germline

Chr7:117590403

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326638

rs_397508286

7 SubmittersRCV000577606 RCV001811321

NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)

SNV
Germline

Chr7:117590418

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA326653

rs_397508293

9 SubmittersRCV000576955 RCV000781252

NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)

SNV
Germline

Chr7:117590426

Pathogenic

Cystic fibrosis
not specified
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA345306

rs_397508296

17 SubmittersRCV000056353 RCV000781242 RCV000724156 RCV001004271 RCV001831737 RCV003473466 RCV005031493

NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)

SNV
Germline

Chr7:117590436

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326657

rs_397508297

7 SubmittersRCV000577259 RCV004566868 RCV004528257

NM_000492.4(CFTR):c.1766+1G>C

SNV
Germline

Chr7:117590440

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326659

rs_121908748

8 SubmittersRCV000046463 RCV001835656

NM_000492.4(CFTR):c.1766+1G>T

SNV
Germline

Chr7:117590440

Pathogenic

Cystic fibrosis
CFTR-related disorder
Condition: not provided

Reviewed By Expert Panel

CA326660

rs_121908748

5 SubmittersRCV000046464 RCV001826625 RCV001090999

NM_000492.4(CFTR):c.1766+3A>C

SNV
Germline

Chr7:117590442

Pathogenic/Likely pathogenic

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326661

rs_397508298

6 SubmittersRCV005606640 RCV000757829

NM_000492.4(CFTR):c.1766+3A>G

SNV
Germline

Chr7:117590442

Pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Reviewed By Expert Panel

CA328090

rs_397508298

12 SubmittersRCV000056354 RCV000301070 RCV003466901 RCV002228155

NM_000492.4(CFTR):c.1766+5G>A

SNV
Germline

Chr7:117590444

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326662

rs_121908796

2 SubmittersRCV000577703

NM_000492.4(CFTR):c.1766+73T>G

SNV
Germline

Chr7:117590512

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326664

rs_397508299

4 SubmittersRCV000729354 RCV000577334

NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)

SNV
Germline

Chr7:117590439

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA326665

rs_397508300

10 SubmittersRCV000757803 RCV001826626 RCV003473467 RCV004703200 RCV005042129

NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)

SNV
Germline

Chr7:117590439

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326669

rs_397508300

3 SubmittersRCV001004272 RCV000577310

NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)

SNV
Germline

Chr7:117509047

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326672

rs_77284892

4 SubmittersRCV000577024 RCV004566869

NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)

SNV
Germline

Chr7:117591959

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326674

rs_397508302

1 SubmittersRCV002284248

NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)

SNV
Germline

Chr7:117591968

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326681

rs_397508306

4 SubmittersRCV000577043 RCV001009373

NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr)

SNV
Germline

Chr7:117591969

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326682

rs_397508307

2 SubmittersRCV000577395

NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)

SNV
Germline

Chr7:117591978

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326688

rs_397508308

5 SubmittersRCV000665515 RCV001009540

NM_000492.4(CFTR):c.1826A>G (p.His609Arg)

SNV
Germline

Chr7:117591993

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
Condition: not provided
not specified
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA326692

rs_397508310

13 SubmittersRCV000577469 RCV001009543 RCV001284132 RCV001001757 RCV003473468 RCV005042131

NM_000492.4(CFTR):c.1826A>T (p.His609Leu)

SNV
Germline

Chr7:117591993

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326694

rs_397508310

4 SubmittersRCV000507939 RCV000778818

NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)

SNV
Germline

Chr7:117592004

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326697

rs_201978662

7 SubmittersRCV000577180 RCV003466902 RCV002228156 RCV005031494

NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)

SNV
Germline

Chr7:117592008

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA326700

rs_201124247

15 SubmittersRCV000577786 RCV002227057 RCV001004275 RCV001009371 RCV003473469 RCV001831738 RCV005042132

NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)

SNV
Germline

Chr7:117592020

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA221010

rs_139468767

13 SubmittersRCV000046494 RCV000790746 RCV001004276 RCV002490611 RCV003473470 RCV004734604

NM_000492.4(CFTR):c.1860T>G (p.His620Gln)

SNV
Germline

Chr7:117592027

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326703

rs_397508315

4 SubmittersRCV000577374

NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)

SNV
Germline

Chr7:117592049

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA326706

rs_397508316

6 SubmittersRCV000577750

NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)

SNV
Germline

Chr7:117592049

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA326707

rs_397508316

8 SubmittersRCV000577206 RCV000730837 RCV001831739 RCV005031495

NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)

SNV
Germline

Chr7:117592076

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326713

rs_397508320

2 SubmittersRCV000577807

NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)

SNV
Germline

Chr7:117592133

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326719

rs_397508323

4 SubmittersRCV000577648 RCV001831740

NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)

SNV
Germline

Chr7:117592157

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA326725

rs_397508327

8 SubmittersRCV000577577 RCV001781372 RCV001831742

NM_000492.4(CFTR):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:117480095

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA345308

rs_397508328

10 SubmittersRCV000056356 RCV000755921 RCV001826627

NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)

SNV
Germline

Chr7:117509069

Pathogenic; drug response

Cystic fibrosis
Condition: not provided
ivacaftor response - Efficacy
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA345310

rs_368505753

23 SubmittersRCV000056357 RCV000724153 RCV000660821 RCV001004231 RCV001826628 RCV002247433 RCV002496711 RCV003473472

NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)

SNV
Germline

Chr7:117592184

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326730

rs_397508331

9 SubmittersRCV000046523 RCV001831743 RCV003473473 RCV002483054

NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)

SNV
Germline

Chr7:117509071

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326732

rs_397508332

8 SubmittersRCV000577254 RCV000586819 RCV004734605

NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)

SNV
Germline

Chr7:117592203

Pathogenic

Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA326734

rs_397508333

5 SubmittersRCV000046525 RCV004795980 RCV003473474

NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr7:117592220

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326740

rs_397508336

2 SubmittersRCV000046532 RCV001826629

NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)

SNV
Germline

Chr7:117592292

Pathogenic

Cystic fibrosis
Condition: not provided
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328093

rs_121908760

15 SubmittersRCV000056359 RCV000727640 RCV001000919 RCV001004468 RCV001826631 RCV003473476

NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)

SNV
Germline

Chr7:117592293

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA326749

rs_397508342

3 SubmittersRCV001004469 RCV004566870 RCV002415501 RCV003155057

NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr7:117592310

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326751

rs_397508343

3 SubmittersRCV000576466 RCV001826632

NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)

SNV
Germline

Chr7:117592323

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326754

rs_397508345

2 SubmittersRCV000577719

NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)

SNV
Germline

Chr7:117592325

Pathogenic

Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA326756

rs_397508346

5 SubmittersRCV000785630 RCV001826633 RCV005042133

NM_000492.4(CFTR):c.215C>A (p.Ala72Asp)

SNV
Germline

Chr7:117509084

Likely pathogenic

CFTR-related disorder

No Assertion Criteria Provided

rs_397508347

1 SubmittersRCV005606511

NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)

SNV
Germline

Chr7:117592340

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326762

rs_199791061

13 SubmittersRCV001009489 RCV000577536 RCV000590320 RCV002265582 RCV005042134

NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)

SNV
Germline

Chr7:117592362

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328095

rs_397508350

13 SubmittersRCV000056360 RCV001269766 RCV001831744 RCV003473477

NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)

SNV
Germline

Chr7:117592377

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326770

rs_186089140

8 SubmittersRCV001369922 RCV003466904 RCV004998161

NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)

SNV
Germline

Chr7:117509090

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA243179

rs_142540482

14 SubmittersRCV000046556 RCV000177074 RCV000589418 RCV001161752

NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter)

SNV
Germline

Chr7:117592400

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326772

rs_397508354

3 SubmittersRCV001009459 RCV001831745

NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)

SNV
Germline

Chr7:117592416

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA221011

rs_140455771

25 SubmittersRCV000078984 RCV000675059 RCV001009488 RCV001588874 RCV002256031 RCV003473479 RCV005031496

NM_000492.4(CFTR):c.2259C>T (p.Ser753=)

SNV
Germline

Chr7:117592426

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA326782

rs_201888075

5 SubmittersRCV001163689 RCV001491792 RCV003987338

NM_000492.4(CFTR):c.2260G>A (p.Val754Met)

SNV
Germline

Chr7:117592427

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326784

rs_150157202

19 SubmittersRCV000046566 RCV000589543 RCV000242825 RCV001163690 RCV002255272

NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)

SNV
Germline

Chr7:117592457

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328100

rs_121908810

11 SubmittersRCV000056363 RCV000759035 RCV001004473 RCV001831746 RCV003473480

NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)

SNV
Germline

Chr7:117592494

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA326792

rs_397508365

4 SubmittersRCV000577388 RCV001831747

NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr7:117592508

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326796

rs_397508368

3 SubmittersRCV001922461

NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)

SNV
Germline

Chr7:117592520

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326800

rs_374946172

9 SubmittersRCV000046582 RCV001004474 RCV001826635 RCV003473483 RCV005042136

NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)

SNV
Germline

Chr7:117509105

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326804

rs_397508371

4 SubmittersRCV000577054

NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)

SNV
Germline

Chr7:117592541

Pathogenic

Cystic fibrosis
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326807

rs_145449046

10 SubmittersRCV000046586 RCV000780127 RCV001004475 RCV001826636 RCV004566871

NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)

SNV
Germline

Chr7:117592584

Conflicting classifications of pathogenicity

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA326813

rs_397508375

11 SubmittersRCV000577591 RCV001004476 RCV001255509 RCV001588875 RCV001781374 RCV002228157 RCV003473484 RCV005031497

NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)

SNV
Germline

Chr7:117592607

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA326818

rs_397508377

5 SubmittersRCV000576941 RCV004566872 RCV001831749

NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)

SNV
Germline

Chr7:117592631

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326820

rs_397508378

2 SubmittersRCV000577213

NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)

SNV
Germline

Chr7:117592631

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328102

rs_397508378

7 SubmittersRCV000056365 RCV002496712 RCV001004478 RCV001200188 RCV001831750 RCV003473485

NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter)

SNV
Germline

Chr7:117592634

Pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326821

rs_397508379

2 SubmittersRCV003475696 RCV004701076

NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)

SNV
Germline

Chr7:117592655

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326826

rs_397508382

2 SubmittersRCV000577412

NM_000492.4(CFTR):c.2491-2A>G

SNV
Unknown

Chr7:117594928

Pathogenic

Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

rs_397508386

1 SubmittersRCV004575628

NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)

SNV
Germline

Chr7:117594930

Pathogenic

Cystic fibrosis
Hereditary pancreatitis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA345311

rs_397508387

11 SubmittersRCV000056366 RCV001197557 RCV001826638 RCV003473487 RCV005031498

NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter)

SNV
Germline

Chr7:117594935

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326832

rs_397508388

1 SubmittersRCV001009465

NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)

SNV
Germline

Chr7:117594945

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326836

rs_201386642

17 SubmittersRCV000046610 RCV000224075 RCV000825894 RCV004734606 RCV002288550

NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)

SNV
Germline

Chr7:117594976

Pathogenic

Cystic fibrosis
not specified
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328104

rs_397508393

9 SubmittersRCV000056367 RCV000781236 RCV001826640 RCV001529697 RCV004566873

NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)

SNV
Germline

Chr7:117594986

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326841

rs_397508394

8 SubmittersRCV000046615 RCV001009528 RCV001826641

NM_000492.4(CFTR):c.254G>T (p.Gly85Val)

SNV
Germline

Chr7:117509123

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA326843

rs_75961395

3 SubmittersRCV000577243

NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)

SNV
Germline

Chr7:117594991

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326845

rs_397508395

7 SubmittersRCV000577717 RCV001826642

NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter)

SNV
Germline

Chr7:117595039

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA326859

rs_397508404

1 SubmittersRCV001009508

NM_000492.4(CFTR):c.2619+2T>A

SNV
Germline

Chr7:117595060

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326863

rs_397508407

2 SubmittersRCV000577222

NM_000492.4(CFTR):c.2620-6T>C

SNV
Germline

Chr7:117602820

Conflicting classifications of pathogenicity

Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326870

rs_371315682

11 SubmittersRCV000589355 RCV001588876 RCV000987963 RCV001358661 RCV004542716

NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)

SNV
Germline

Chr7:117509132

Pathogenic

Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA326872

rs_397508412

6 SubmittersRCV000576641 RCV001826643 RCV005042137

NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)

SNV
Germline

Chr7:117509132

Pathogenic

Cystic fibrosis
not specified
CFTR-related disorder
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA326876

rs_397508412

9 SubmittersRCV000046644 RCV000781278 RCV001835659 RCV002281549 RCV003473490 RCV005042138

NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)

SNV
Germline

Chr7:117602851

Pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326877

rs_397508413

6 SubmittersRCV003466905 RCV000576558 RCV001826644

NM_000492.4(CFTR):c.2658-1G>T

SNV
Germline

Chr7:117603531

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326881

rs_397508416

1 SubmittersRCV001009452

NM_000492.4(CFTR):c.2679G>T (p.Gly893=)

SNV
Germline

Chr7:117603553

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326886

rs_397508419

8 SubmittersRCV001002013 RCV001250515 RCV005042140

NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)

SNV
Germline

Chr7:117603558

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
CFTR-related disorder
Condition: not provided
Breast neoplasm
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326888

rs_201864483

12 SubmittersRCV000508371 RCV000667642 RCV001158765 RCV001284478 RCV001265632 RCV002257389

NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)

SNV
Germline

Chr7:117603580

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326894

rs_397508422

3 SubmittersRCV000757863

NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)

SNV
Germline

Chr7:117603597

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA326898

rs_369521395

7 SubmittersRCV001009494 RCV000577705 RCV003235015 RCV003473492

NM_000492.4(CFTR):c.273+1G>A

SNV
Germline

Chr7:117509143

Pathogenic

Cystic fibrosis
Condition: not provided
not specified
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328106

rs_121908791

11 SubmittersRCV000056369 RCV000224473 RCV000780139 RCV001835660 RCV002490612 RCV003473493

NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)

SNV
Germline

Chr7:117603609

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326900

rs_121909034

9 SubmittersRCV000046665 RCV001009512 RCV001826646 RCV002256032 RCV003474549

NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)

SNV
Germline

Chr7:117603613

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326903

rs_149790377

11 SubmittersRCV000046670 RCV001004486 RCV001509321 RCV001831754 RCV003474550

NM_000492.4(CFTR):c.274-1G>C

SNV
Germline

Chr7:117530898

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA326906

rs_121908792

6 SubmittersRCV000664921 RCV004566874

NM_000492.4(CFTR):c.274-1G>T

SNV
Germline

Chr7:117530898

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA326907

rs_121908792

1 SubmittersRCV001009450

NM_000492.4(CFTR):c.274-2A>G

SNV
Germline

Chr7:117530897

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326908

rs_397508426

10 SubmittersRCV000577517 RCV001831755 RCV003474551

NM_000492.4(CFTR):c.2758G>A (p.Val920Met)

SNV
Germline

Chr7:117603632

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326916

rs_373885282

15 SubmittersRCV000781291 RCV000577642 RCV000731224 RCV000765926 RCV004537227

NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)

SNV
Germline

Chr7:117603632

Conflicting classifications of pathogenicity

Cystic fibrosis
Obstructive azoospermia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA326918

rs_373885282

8 SubmittersRCV000577094 RCV001646981 RCV000723423 RCV003230381

NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)

SNV
Germline

Chr7:117530901

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326921

rs_397508432

5 SubmittersRCV001277174

NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)

SNV
Germline

Chr7:117603654

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA328107

rs_397508435

6 SubmittersRCV000056371 RCV001826648

NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)

SNV
Germline

Chr7:117603671

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326927

rs_397508436

8 SubmittersRCV000577327 RCV001009477 RCV001588877 RCV000595350

NM_000492.4(CFTR):c.2808A>G (p.Pro936=)

SNV
Germline

Chr7:117603682

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326931

rs_397508438

4 SubmittersRCV001260391 RCV001705705 RCV001532117

NM_000492.4(CFTR):c.2816A>G (p.His939Arg)

SNV
Germline

Chr7:117603690

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326935

rs_397508440

3 SubmittersRCV002433535 RCV005429219

NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)

SNV
Germline

Chr7:117603708

Pathogenic; drug response

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
ivacaftor response - Efficacy
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA345314

rs_397508442

21 SubmittersRCV000056372 RCV000723381 RCV001009364 RCV001027913 RCV000660828 RCV001004489 RCV003474554 RCV005031500

NM_000492.4(CFTR):c.2846A>T (p.His949Leu)

SNV
Germline

Chr7:117603720

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326942

rs_397508444

8 SubmittersRCV000577071 RCV001835661 RCV005600633

NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)

SNV
Germline

Chr7:117603730

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326946

rs_151048781

21 SubmittersRCV000577274 RCV000588974 RCV000733156 RCV001009476 RCV003474555 RCV005031501

NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)

SNV
Germline

Chr7:117603782

Conflicting classifications of pathogenicity

Cystic fibrosis
Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA326958

rs_397508453

6 SubmittersRCV000673430 RCV002247434 RCV003476942

NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)

SNV
Germline

Chr7:117603782

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA328109

rs_397508453

5 SubmittersRCV000056374 RCV001826650

NM_000492.4(CFTR):c.2909-15T>G

SNV
Germline

Chr7:117606659

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326961

rs_397508455

11 SubmittersRCV000508198 RCV001009391 RCV000670991 RCV005031502

NM_000492.4(CFTR):c.2909-1G>A

SNV
Germline

Chr7:117606673

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA326962

rs_397508456

1 SubmittersRCV001780490

NM_000492.4(CFTR):c.2909-4A>G

SNV
Germline

Chr7:117606670

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA326963

rs_397508457

6 SubmittersRCV000593074 RCV000665147 RCV001826651

NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)

SNV
Germline

Chr7:117606694

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA326973

rs_137975784

3 SubmittersRCV000577747

NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)

SNV
Germline

Chr7:117530917

Pathogenic

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Reviewed By Expert Panel

CA345317

rs_397508461

10 SubmittersRCV000056375 RCV000781254 RCV003474557 RCV001831761

NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)

SNV
Germline

Chr7:117606701

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA326977

rs_397508462

9 SubmittersRCV000577756 RCV000586469 RCV001811324 RCV004795981 RCV003474559

NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)

SNV
Germline

Chr7:117606701

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326979

rs_397508462

4 SubmittersRCV000577309 RCV001009520

NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)

SNV
Germline

Chr7:117606704

Conflicting classifications of pathogenicity

not specified
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326981

rs_397508463

9 SubmittersRCV001001213 RCV001009475 RCV000586046 RCV000577032 RCV003137585 RCV005031504

NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)

SNV
Germline

Chr7:117530918

Pathogenic

not specified
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA326985

rs_397508464

13 SubmittersRCV000505966 RCV000763149 RCV000588283 RCV001004424 RCV001831762 RCV003474560 RCV003476943

NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)

SNV
Germline

Chr7:117530921

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA326991

rs_397508467

6 SubmittersRCV000577122 RCV001009535

NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)

SNV
Germline

Chr7:117606742

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326993

rs_397508468

6 SubmittersRCV000577451 RCV003474561 RCV003155058 RCV005042141

NM_000492.4(CFTR):c.2989-1G>A

SNV
Germline

Chr7:117610518

Pathogenic

Cystic fibrosis
CFTR-related disorder
not specified
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA345319

rs_397508470

13 SubmittersRCV000056376 RCV001831764 RCV000780171 RCV003466906 RCV001781375 RCV002490613

NM_000492.4(CFTR):c.2989-2A>G

SNV
Germline

Chr7:117610517

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA326997

rs_193922515

10 SubmittersRCV000046741 RCV001004286 RCV001831765 RCV003114231 RCV003474562

NM_000492.4(CFTR):c.2989-3C>G

SNV
Germline

Chr7:117610516

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA326998

rs_397508471

3 SubmittersRCV000577459 RCV003474563

NM_000492.4(CFTR):c.2T>A (p.Met1Lys)

SNV
Germline

Chr7:117480096

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327003

rs_397508476

2 SubmittersRCV000577491

NM_000492.4(CFTR):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:117480096

Pathogenic

Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA327005

rs_397508476

13 SubmittersRCV000046751 RCV002477157 RCV002262607 RCV001826652 RCV003476944

NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)

SNV
Germline

Chr7:117610544

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327012

rs_397508479

6 SubmittersRCV000577028 RCV003474564

NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)

SNV
Germline

Chr7:117610547

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided

Reviewed By Expert Panel

CA327013

rs_397508480

8 SubmittersRCV000577175 RCV001004287 RCV003159093

NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)

SNV
Germline

Chr7:117530927

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327020

rs_397508484

2 SubmittersRCV000577461

NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)

SNV
Germline

Chr7:117610568

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327022

rs_193922516

11 SubmittersRCV000577169 RCV004791247 RCV005042142 RCV001831767

NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)

SNV
Germline

Chr7:117610577

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA327027

rs_397508488

7 SubmittersRCV001004288 RCV000577048 RCV001174827

NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)

SNV
Germline

Chr7:117530930

Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA327031

rs_397508490

3 SubmittersRCV000577371 RCV005606641

NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)

SNV
Germline

Chr7:117610591

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327033

rs_397508491

5 SubmittersRCV001826654 RCV000577484

NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)

SNV
Germline

Chr7:117610613

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327038

rs_397508494

7 SubmittersRCV000755919 RCV001785468 RCV003235016 RCV001826655

NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)

SNV
Germline

Chr7:117610633

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327043

rs_397508496

7 SubmittersRCV000046781 RCV001831769 RCV003466907

NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)

SNV
Germline

Chr7:117610637

Pathogenic

Cystic fibrosis
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA327046

rs_397508498

9 SubmittersRCV000577654 RCV000781270 RCV001004291 RCV004566875 RCV002254276

NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)

SNV
Germline

Chr7:117610654

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327049

rs_397508500

6 SubmittersRCV000576454 RCV001826656

NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly)

SNV
Germline

Chr7:117610661

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327051

rs_397508501

2 SubmittersRCV000505907 RCV004586521

NM_000492.4(CFTR):c.3139+1G>A

SNV
Germline

Chr7:117610670

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327054

rs_397508503

1 SubmittersRCV001009408

NM_000492.4(CFTR):c.3140-1G>A

SNV
Germline

Chr7:117611580

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327060

rs_397508506

3 SubmittersRCV000664999 RCV003474567

NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)

SNV
Germline

Chr7:117530939

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327065

rs_397508509

4 SubmittersRCV001382997 RCV001826657 RCV005042143

NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)

SNV
Germline

Chr7:117611599

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA327068

rs_140883683

8 SubmittersRCV000046800 RCV000587271 RCV003474568 RCV001826658 RCV001800353

NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)

SNV
Germline

Chr7:117611601

Pathogenic

Cystic fibrosis
not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327070

rs_397508510

7 SubmittersRCV000046801 RCV000781263 RCV001826659 RCV004566876

NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)

SNV
Germline

Chr7:117611622

Pathogenic

Cystic fibrosis
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA221023

rs_142394380

10 SubmittersRCV000046807 RCV000078994 RCV000999884 RCV001004296 RCV001831770 RCV003466908

NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)

SNV
Germline

Chr7:117611630

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327080

rs_397508514

3 SubmittersRCV000577785

NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)

SNV
Germline

Chr7:117611635

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327084

rs_121909036

4 SubmittersRCV000577502 RCV003466909

NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)

SNV
Germline

Chr7:117611638

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327087

rs_121909019

4 SubmittersRCV000577722

NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)

SNV
Germline

Chr7:117611641

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA327095

rs_1800114

11 SubmittersRCV000586398 RCV000670817 RCV004525827 RCV002228158 RCV005229869

NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)

SNV
Germline

Chr7:117611646

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
not specified
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA327097

rs_200321110

20 SubmittersRCV000046823 RCV000506564 RCV001009473 RCV001375487 RCV003474569 RCV004795982 RCV002226453 RCV005031506

NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)

SNV
Germline

Chr7:117611650

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327100

rs_78769542

2 SubmittersRCV000577217

NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)

SNV
Germline

Chr7:117611652

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327101

rs_397508517

1 SubmittersRCV001009404

NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)

SNV
Germline

Chr7:117611671

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328111

rs_139304906

14 SubmittersRCV000056377 RCV001004303 RCV001826661 RCV001508221 RCV005031508 RCV003474572

NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)

SNV
Germline

Chr7:117530948

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327108

rs_397508520

7 SubmittersRCV000577153 RCV001009379 RCV003466910

NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)

SNV
Germline

Chr7:117611698

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327112

rs_77958296

4 SubmittersRCV000665381

NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)

SNV
Germline

Chr7:117530950

Conflicting classifications of pathogenicity

Cystic fibrosis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA327114

rs_397508522

5 SubmittersRCV000672235 RCV005031509

NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)

SNV
Germline

Chr7:117611703

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327116

rs_397508523

5 SubmittersRCV000577535

NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)

SNV
Germline

Chr7:117530952

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327123

rs_397508528

5 SubmittersRCV000577345

NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)

SNV
Germline

Chr7:117530953

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327127

rs_113993958

7 SubmittersRCV000508454 RCV001705706 RCV003480044 RCV004537229

NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)

SNV
Germline

Chr7:117611733

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA327130

rs_397508531

11 SubmittersRCV000577522 RCV000985688 RCV005031510

NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)

SNV
Germline

Chr7:117611734

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327131

rs_397508532

7 SubmittersRCV000046855 RCV001009509 RCV001831771 RCV004566877

NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)

SNV
Germline

Chr7:117611735

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327132

rs_397508533

5 SubmittersRCV000576929 RCV002281550

NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)

SNV
Germline

Chr7:117611740

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327135

rs_397508535

9 SubmittersRCV000577192 RCV001004493 RCV001831772 RCV003474574

NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)

SNV
Germline

Chr7:117611743

Pathogenic

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327137

rs_36210737

5 SubmittersRCV000785632 RCV000508206 RCV004566878

NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)

SNV
Germline

Chr7:117611745

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327138

rs_397508536

7 SubmittersRCV000046861 RCV001826662

NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)

SNV
Germline

Chr7:117611751

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA328113

rs_397508538

7 SubmittersRCV000056381 RCV001831774

NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)

SNV
Germline

Chr7:117530956

Pathogenic/Likely pathogenic

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327145

rs_397508541

4 SubmittersRCV001009499 RCV000577688

NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)

SNV
Germline

Chr7:117530957

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
See cases
not specified

Criteria Provided
Conflicting Classifications

CA327149

rs_140502196

14 SubmittersRCV000046868 RCV000590642 RCV001009500 RCV002251952 RCV001844026

NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)

SNV
Germline

Chr7:117611794

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327150

rs_146521846

4 SubmittersRCV000576956 RCV004526606 RCV003474576

NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)

SNV
Germline

Chr7:117611794

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Reviewed By Expert Panel

CA327152

rs_146521846

12 SubmittersRCV000577360 RCV001781376 RCV002281551 RCV005031511 RCV003474577 RCV004734608

NM_000492.4(CFTR):c.3368-1G>A

SNV
Germline

Chr7:117614612

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

rs_397508547

1 SubmittersRCV005200642

NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)

SNV
Germline

Chr7:117614627

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327162

rs_397508549

4 SubmittersRCV001731142 RCV001832867

NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)

SNV
Germline

Chr7:117614654

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Infertility disorder

Criteria Provided
Conflicting Classifications

CA327169

rs_397508553

10 SubmittersRCV000577660 RCV000590826 RCV003474578 RCV002223781 RCV001327955

NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)

SNV
Germline

Chr7:117614655

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327172

rs_397508555

4 SubmittersRCV000577123

NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)

SNV
Germline

Chr7:117614660

Conflicting classifications of pathogenicity

not specified
Condition: not provided
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327174

rs_397508556

13 SubmittersRCV000508519 RCV000727469 RCV002281552 RCV005042144 RCV001857385

NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys)

SNV
Germline

Chr7:117614664

Likely pathogenic

Cystic fibrosis
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis

Criteria Provided
Single Submitter

CA327178

rs_397508558

2 SubmittersRCV000576944 RCV004018953

NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)

SNV
Germline

Chr7:117614675

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA327181

rs_397508560

4 SubmittersRCV001389828 RCV001826664

NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)

SNV
Germline

Chr7:117614680

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA327183

rs_397508561

5 SubmittersRCV000576362 RCV001811326 RCV001826665

NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)

SNV
Germline

Chr7:117614703

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
not specified

Criteria Provided
Conflicting Classifications

CA327194

rs_397508567

8 SubmittersRCV000577089 RCV001508225 RCV001009502 RCV003474579 RCV004689435

NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)

SNV
Germline

Chr7:117614706

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA327198

rs_397508569

5 SubmittersRCV000577763 RCV001009503 RCV004700332 RCV003235017

NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)

SNV
Germline

Chr7:117614713

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder

Reviewed By Expert Panel

CA242034

rs_139729994

15 SubmittersRCV000046899 RCV001009370 RCV000428306 RCV003474580 RCV005042145 RCV001826667

NM_000492.4(CFTR):c.3469-17T>C

SNV
Germline

Chr7:117627505

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327200

rs_199630678

12 SubmittersRCV000245337 RCV000726749 RCV004795983 RCV001082947

NM_000492.4(CFTR):c.3469-2A>G

SNV
Germline

Chr7:117627520

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA327201

rs_397508570

5 SubmittersRCV000577266 RCV003466911 RCV001831775

NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)

SNV
Germline

Chr7:117530971

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA327204

rs_397508571

8 SubmittersRCV000577691 RCV000755922 RCV002281553 RCV005031512

NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)

SNV
Germline

Chr7:117627528

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327208

rs_397508572

4 SubmittersRCV000785634 RCV003474581

NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)

SNV
Germline

Chr7:117627529

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA327210

rs_397508573

6 SubmittersRCV000577354

NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)

SNV
Germline

Chr7:117530974

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA327217

rs_77834169

11 SubmittersRCV000670642 RCV001811327 RCV003474582 RCV005357374 RCV002281554

NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)

SNV
Germline

Chr7:117530975

Pathogenic

Cystic fibrosis
Condition: not provided

Reviewed By Expert Panel

CA327221

rs_78655421

7 SubmittersRCV000577567 RCV001563129

NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)

SNV
Germline

Chr7:117530975

Pathogenic/Likely 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

Criteria Provided
Multiple Submitters
No Conflicts

CA327222

rs_78655421

10 SubmittersRCV000577295 RCV000985692 RCV003474583 RCV003483455

NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)

SNV
Germline

Chr7:117627582

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA327223

rs_397508578

2 SubmittersRCV000577595

NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)

SNV
Germline

Chr7:117627599

Pathogenic/Likely pathogenic

not specified
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327228

rs_397508581

3 SubmittersRCV000781268 RCV001852981

NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter)

SNV
Unknown

Chr7:117627609

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327230

rs_397508582

1 SubmittersRCV002284587

NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)

SNV
Germline

Chr7:117530983

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Bronchiectasis with or without elevated sweat chloride 1
Infertility disorder
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Conflicting Classifications

CA327235

rs_201958172

18 SubmittersRCV000577110 RCV000587814 RCV001731339 RCV003474584 RCV001327956 RCV005430953

NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)

SNV
Germline

Chr7:117627665

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA221029

rs_121908765

11 SubmittersRCV000056384 RCV001009526 RCV000781267 RCV001826668 RCV003474585 RCV000790735

NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter)

SNV
Germline

Chr7:117627670

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327240

rs_397508588

1 SubmittersRCV001009399

NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)

SNV
Germline

Chr7:117627670

Pathogenic

Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA327242

rs_397508588

5 SubmittersRCV000577418 RCV001009531 RCV005042146

NM_000492.4(CFTR):c.3717+40A>G

SNV
Germline

Chr7:117627810

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327255

rs_397508595

10 SubmittersRCV000576505 RCV000727551 RCV001826670 RCV001009536 RCV003474586

NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)

SNV
Germline

Chr7:117627770

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA327257

rs_144781064

6 SubmittersRCV000576710

NM_000492.4(CFTR):c.3718-3T>G

SNV
Germline

Chr7:117642435

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327260

rs_397508596

6 SubmittersRCV000046958 RCV003466912

NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)

SNV
Germline

Chr7:117642439

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA327262

rs_397508598

6 SubmittersRCV000577207

NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg)

SNV
Germline

Chr7:117642450

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327264

rs_397508599

1 SubmittersRCV001387159

NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)

SNV
Germline

Chr7:117642451

Pathogenic; drug response

ivacaftor response - Efficacy
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA328120

rs_267606723

12 SubmittersRCV000211150 RCV000056386 RCV000763160 RCV001004504 RCV001831779 RCV003474587 RCV002247437

NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)

SNV
Germline

Chr7:117642457

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA327268

rs_397508600

12 SubmittersRCV000668850 RCV003474588 RCV001811328 RCV002281555

NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)

SNV
Germline

Chr7:117642465

Pathogenic

CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA327272

rs_397508602

4 SubmittersRCV001826671 RCV000577065

NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)

SNV
Germline

Chr7:117530999

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA327274

rs_141723617

12 SubmittersRCV000595646 RCV001081823 RCV001163272 RCV001509309

NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)

SNV
Germline

Chr7:117642481

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327280

rs_397508604

7 SubmittersRCV000046973 RCV001004506 RCV001826672 RCV004767042 RCV003474589

NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)

SNV
Germline

Chr7:117531001

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA327284

rs_397508606

5 SubmittersRCV000577162 RCV002281737 RCV001580452

NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)

SNV
Germline

Chr7:117642491

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327286

rs_397508607

5 SubmittersRCV000046979

NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)

SNV
Germline

Chr7:117531002

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA327290

rs_397508609

14 SubmittersRCV000577044 RCV002228161 RCV001004429 RCV002281556 RCV003474590 RCV003736567 RCV005031514

NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)

SNV
Germline

Chr7:117642542

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327299

rs_397508613

4 SubmittersRCV000577787 RCV001826673

NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)

SNV
Germline

Chr7:117642561

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327302

rs_397508615

4 SubmittersRCV000577368

NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)

SNV
Germline

Chr7:117642564

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327304

rs_397508616

5 SubmittersRCV000577632 RCV003474591

NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)

SNV
Germline

Chr7:117642564

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327305

rs_397508616

3 SubmittersRCV000577082

NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)

SNV
Germline

Chr7:117642574

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
Hereditary pancreatitis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327309

rs_397508617

12 SubmittersRCV000577447 RCV000585919 RCV001507714 RCV003448254 RCV004537230

NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser)

SNV
Germline

Chr7:117642588

Conflicting classifications of pathogenicity

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA327312

rs_397508619

4 SubmittersRCV000577136 RCV005031515 RCV005406778

NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)

SNV
Germline

Chr7:117642591

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327314

rs_397508620

5 SubmittersRCV000577232 RCV003474592

NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)

SNV
Germline

Chr7:117642592

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327316

rs_397508621

6 SubmittersRCV001009375 RCV000506407 RCV000664625

NM_000492.4(CFTR):c.3873+2T>C

SNV
Germline

Chr7:117642595

Pathogenic

Condition: not provided
CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA327317

rs_146795445

8 SubmittersRCV001507715 RCV001831780 RCV000576323

NM_000492.4(CFTR):c.3874-1G>A

SNV
Germline

Chr7:117652841

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327321

rs_397508624

8 SubmittersRCV000577716 RCV003474593

NM_000492.4(CFTR):c.3874-4A>G

SNV
Germline

Chr7:117652838

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327322

rs_201381687

4 SubmittersRCV000665032 RCV001158875

NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)

SNV
Germline

Chr7:117652864

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327332

rs_397508634

10 SubmittersRCV001002282 RCV000577585 RCV001507716 RCV001831784

NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)

SNV
Germline

Chr7:117480132

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327334

rs_397508635

9 SubmittersRCV000577001 RCV000759040 RCV001004226 RCV003474596

NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)

SNV
Germline

Chr7:117652876

Pathogenic/Likely pathogenic

CFTR-related disorder
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327335

rs_397508636

8 SubmittersRCV001009506 RCV000577150 RCV001004512 RCV001530074 RCV004566879

NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)

SNV
Germline

Chr7:117652890

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA327349

rs_397508643

2 SubmittersRCV000577670

NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)

SNV
Germline

Chr7:117652897

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327353

rs_397508645

4 SubmittersRCV000047036 RCV001831786

NM_000492.4(CFTR):c.3963+2T>A

SNV
Germline

Chr7:117652933

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327364

rs_397508650

2 SubmittersRCV000577173

NM_000492.4(CFTR):c.3964-3C>G

SNV
Germline

Chr7:117664685

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327366

rs_397508652

5 SubmittersRCV000577488 RCV003474597

NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)

SNV
Germline

Chr7:117664695

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA327367

rs_397508653

5 SubmittersRCV000576921

NM_000492.4(CFTR):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:117480097

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327373

rs_397508657

2 SubmittersRCV000757844

NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)

SNV
Germline

Chr7:117664728

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA327378

rs_397508658

11 SubmittersRCV000047055 RCV002228162 RCV003474598 RCV005031519

NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)

SNV
Germline

Chr7:117480134

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327398

rs_397508673

2 SubmittersRCV001009425 RCV003466913

NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)

SNV
Germline

Chr7:117664835

Pathogenic

not specified
Condition: not provided
Cystic fibrosis

Reviewed By Expert Panel

CA327404

rs_397508675

7 SubmittersRCV000780149 RCV002477160 RCV000047076

NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)

SNV
Germline

Chr7:117664848

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA327412

rs_397508678

5 SubmittersRCV000757787

NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)

SNV
Germline

Chr7:117664853

Conflicting classifications of pathogenicity

Condition: not provided
CFTR-related disorder
not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327414

rs_150683293

6 SubmittersRCV000300236 RCV001009485 RCV003488366 RCV001852982

NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)

SNV
Germline

Chr7:117665466

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA327424

rs_397508684

9 SubmittersRCV000047087 RCV001091002 RCV001826680

NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter)

SNV
Germline

Chr7:117665490

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327432

rs_397508689

1 SubmittersRCV001009422

NM_000492.4(CFTR):c.416A>G (p.His139Arg)

SNV
Germline

Chr7:117531041

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327434

rs_76371115

5 SubmittersRCV000577519 RCV003474600

NM_000492.4(CFTR):c.416A>T (p.His139Leu)

SNV
Germline

Chr7:117531041

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327435

rs_76371115

8 SubmittersRCV000577674 RCV000985694 RCV003466914

NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)

SNV
Germline

Chr7:117665515

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA327441

rs_397508692

5 SubmittersRCV001272369 RCV000781272

NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)

SNV
Germline

Chr7:117665523

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327449

rs_397508696

2 SubmittersRCV000577074

NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)

SNV
Germline

Chr7:117665547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA327456

rs_397508699

9 SubmittersRCV000576918 RCV001811330 RCV002504943

NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)

SNV
Germline

Chr7:117531047

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327458

rs_397508700

5 SubmittersRCV000577350

NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)

SNV
Germline

Chr7:117665553

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327459

rs_397508701

6 SubmittersRCV000047110 RCV001826682

NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)

SNV
Germline

Chr7:117665556

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA327461

rs_397508702

8 SubmittersRCV000047111 RCV001826683 RCV003474601 RCV005031521

NM_000492.4(CFTR):c.4242+10T>C

SNV
Germline

Chr7:117665574

Conflicting classifications of pathogenicity

not specified
CFTR-related disorder
Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146702

rs_138642693

10 SubmittersRCV000079004 RCV001158877 RCV001080172 RCV001528665

NM_000492.4(CFTR):c.4242+1G>A

SNV
Germline

Chr7:117665565

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

CA327465

rs_372227120

9 SubmittersRCV000576317 RCV002504944 RCV001826684

NM_000492.4(CFTR):c.4242+1G>T

SNV
Germline

Chr7:117665565

Pathogenic

Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA327466

rs_372227120

8 SubmittersRCV001004307 RCV001831791 RCV000047115

NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)

SNV
Germline

Chr7:117666917

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327469

rs_397508707

2 SubmittersRCV000047120

NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)

SNV
Germline

Chr7:117666941

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA327473

rs_397508708

6 SubmittersRCV000665842 RCV001009481 RCV003317064

NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)

SNV
Germline

Chr7:117666998

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327479

rs_148783445

14 SubmittersRCV000047128 RCV000506986 RCV000586730 RCV004537233

NM_000492.4(CFTR):c.434T>A (p.Leu145His)

SNV
Germline

Chr7:117531059

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327481

rs_397508712

2 SubmittersRCV003475690 RCV004823160

NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)

SNV
Germline

Chr7:117667082

Pathogenic/Likely pathogenic

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA327487

rs_397508716

5 SubmittersRCV000577497 RCV000781256 RCV002496714

NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)

SNV
Germline

Chr7:117667091

Pathogenic/Likely pathogenic

Cystic fibrosis
not specified
Condition: not provided
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA221031

rs_374705585

16 SubmittersRCV000047135 RCV000505964 RCV000388068 RCV002247439 RCV002477161 RCV001009479 RCV001004311 RCV003466915

NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)

SNV
Germline

Chr7:117531068

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327489

rs_35516286

8 SubmittersRCV000576960 RCV000593590 RCV001004430 RCV004566883

NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)

SNV
Germline

Chr7:117531070

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA327493

rs_397508718

3 SubmittersRCV000577096 RCV003883127

NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr7:117531076

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327498

rs_397508720

2 SubmittersRCV000577704

NM_000492.4(CFTR):c.454A>G (p.Met152Val)

SNV
Germline

Chr7:117531079

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA327500

rs_397508721

9 SubmittersRCV000577102 RCV004566884 RCV004791248

NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)

SNV
Germline

Chr7:117531101

Conflicting classifications of pathogenicity

Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327513

rs_397508727

9 SubmittersRCV000496886 RCV001811331 RCV001831792 RCV001852983 RCV003466916 RCV005031523

NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)

SNV
Germline

Chr7:117531106

Pathogenic

Cystic fibrosis
Condition: not provided

Reviewed By Expert Panel

CA327519

rs_397508729

4 SubmittersRCV000577278 RCV005625252

NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)

SNV
Germline

Chr7:117531107

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327523

rs_397508730

3 SubmittersRCV000577416

NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)

SNV
Germline

Chr7:117531109

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA327525

rs_397508731

7 SubmittersRCV000757854 RCV001532116 RCV005042148

NM_000492.4(CFTR):c.489+2T>C

SNV
Germline

Chr7:117531116

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA327527

rs_397508732

7 SubmittersRCV000577437 RCV003474604 RCV005031524

NM_000492.4(CFTR):c.489+2T>G

SNV
Germline

Chr7:117531116

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327528

rs_397508732

3 SubmittersRCV000577754

NM_000492.4(CFTR):c.489+3A>G

SNV
Germline

Chr7:117531117

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA327529

rs_377729736

22 SubmittersRCV000047162 RCV000507054 RCV001009491 RCV002255273 RCV003474605 RCV005031525

NM_000492.4(CFTR):c.490-1G>A

SNV
Germline

Chr7:117534275

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327533

rs_397508734

7 SubmittersRCV000672764 RCV001004433 RCV001831793 RCV004566885

NM_000492.4(CFTR):c.490-2A>G

SNV
Germline

Chr7:117534274

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA327534

rs_397508735

3 SubmittersRCV000577657 RCV001826689

NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)

SNV
Germline

Chr7:117534280

Pathogenic

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

Reviewed By Expert Panel

CA327535

rs_397508736

7 SubmittersRCV000576939 RCV001826690 RCV005042149

NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr7:117480098

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327541

rs_397508740

10 SubmittersRCV000576848 RCV003474606

NM_000492.4(CFTR):c.509G>A (p.Arg170His)

SNV
Germline

Chr7:117534295

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Chronic pancreatitis

Criteria Provided
Conflicting Classifications

CA275301

rs_1800079

23 SubmittersRCV000047174 RCV000178781 RCV000724146 RCV001009504 RCV003322594 RCV001802207 RCV003993779

NM_000492.4(CFTR):c.523A>G (p.Ile175Val)

SNV
Germline

Chr7:117534309

Pathogenic/Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327547

rs_397508744

10 SubmittersRCV003474607 RCV005031526 RCV000577574

NM_000492.4(CFTR):c.53+1G>T

SNV
Germline

Chr7:117480148

Pathogenic

CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA327550

rs_397508746

9 SubmittersRCV001826691 RCV000047179

NM_000492.4(CFTR):c.53+4A>T

SNV
Germline

Chr7:117480151

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327551

rs_372610364

3 SubmittersRCV000669026

NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)

SNV
Germline

Chr7:117534319

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327554

rs_397508748

4 SubmittersRCV000668392

NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)

SNV
Germline

Chr7:117534333

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA327561

rs_397508751

10 SubmittersRCV000577598 RCV000781269 RCV001795042 RCV004724787

NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)

SNV
Germline

Chr7:117534353

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA327570

rs_397508755

4 SubmittersRCV000577311 RCV004700333

NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)

SNV
Germline

Chr7:117534361

Pathogenic

Cystic fibrosis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA327576

rs_397508758

5 SubmittersRCV000577568 RCV005031527

NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)

SNV
Germline

Chr7:117534363

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA327578

rs_397508759

7 SubmittersRCV000577109 RCV000660831 RCV005031528

NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)

SNV
Germline

Chr7:117534363

Pathogenic

Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Cystic fibrosis

Reviewed By Expert Panel

CA221033

rs_397508759

10 SubmittersRCV000506873 RCV000763154 RCV001831795 RCV000047199

NM_000492.4(CFTR):c.579+3A>G

SNV
Germline

Chr7:117534368

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Obstructive azoospermia
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
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328126

rs_397508761

15 SubmittersRCV000056396 RCV001004438 RCV000506239 RCV001646982 RCV001009385 RCV005394277 RCV003474609

NM_000492.4(CFTR):c.579+5G>A

SNV
Germline

Chr7:117534370

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA328127

rs_78440224

11 SubmittersRCV000056397 RCV001004439 RCV001831796 RCV003474610 RCV005425713

NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)

SNV
Germline

Chr7:117504256

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327582

rs_397508762

2 SubmittersRCV000577168

NM_000492.4(CFTR):c.580-1G>T

SNV
Germline

Chr7:117535247

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Reviewed By Expert Panel

CA328128

rs_121908793

10 SubmittersRCV000056398 RCV001004440 RCV001835666 RCV003466917 RCV002490616

NM_000492.4(CFTR):c.581G>T (p.Gly194Val)

SNV
Germline

Chr7:117535249

Conflicting classifications of pathogenicity

Condition: not provided
CFTR-related disorder
Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327585

rs_397508763

11 SubmittersRCV000729929 RCV001009497 RCV001250516 RCV001002323 RCV004799766 RCV003474611

NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)

SNV
Germline

Chr7:117535260

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA327587

rs_193922529

6 SubmittersRCV000392617 RCV001306468 RCV001831797 RCV003398632 RCV004795984

NM_000492.4(CFTR):c.595C>T (p.His199Tyr)

SNV
Germline

Chr7:117535263

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder

Reviewed By Expert Panel

CA328129

rs_121908802

12 SubmittersRCV000056399 RCV000755925 RCV000763155 RCV001004441 RCV001831798

NM_000492.4(CFTR):c.596A>G (p.His199Arg)

SNV
Germline

Chr7:117535264

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA327589

rs_397508764

4 SubmittersRCV000577325 RCV001831799

NM_000492.4(CFTR):c.597T>G (p.His199Gln)

SNV
Germline

Chr7:117535265

Likely pathogenic

Cystic fibrosis
CFTR-related disorder

No Assertion Criteria Provided

CA327591

rs_397508765

2 SubmittersRCV000577485 RCV005606642

NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)

SNV
Germline

Chr7:117535266

Conflicting classifications of pathogenicity

not specified
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327592

rs_397508766

5 SubmittersRCV000507508 RCV001009495 RCV001705707

NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)

SNV
Germline

Chr7:117535274

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327597

rs_397508768

3 SubmittersRCV000577170

NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)

SNV
Germline

Chr7:117535281

Pathogenic

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA328130

rs_121908803

14 SubmittersRCV000056400 RCV000724656 RCV001004442 RCV003474612 RCV001835667 RCV005031529

NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)

SNV
Germline

Chr7:117535282

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA327601

rs_397508769

2 SubmittersRCV002004711

NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)

SNV
Germline

Chr7:117535287

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327605

rs_397508771

2 SubmittersRCV001272230

NM_000492.4(CFTR):c.627A>G (p.Ala209=)

SNV
Germline

Chr7:117535295

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified

Criteria Provided
Conflicting Classifications

CA327609

rs_397508773

8 SubmittersRCV000577039 RCV001165379 RCV001588878 RCV002247440

NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)

SNV
Germline

Chr7:117535315

Pathogenic

Cystic fibrosis
CFTR-related disorder
not specified

Reviewed By Expert Panel

CA327612

rs_397508775

7 SubmittersRCV000576668 RCV001831801 RCV000780125

NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)

SNV
Germline

Chr7:117535321

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327616

rs_397508777

6 SubmittersRCV000577306 RCV001027905 RCV003474613

NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr7:117535326

Pathogenic

Cystic fibrosis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328131

rs_397508778

12 SubmittersRCV000056401 RCV000763566 RCV001004236 RCV001826695 RCV003474614

NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)

SNV
Germline

Chr7:117535343

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327621

rs_397508781

3 SubmittersRCV000577626

NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)

SNV
Germline

Chr7:117535348

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327623

rs_397508782

3 SubmittersRCV000047234 RCV001826696

NM_000492.4(CFTR):c.695T>A (p.Val232Asp)

SNV
Germline

Chr7:117535363

Pathogenic

Cystic fibrosis
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327625

rs_397508783

17 SubmittersRCV000047235 RCV000780160 RCV001004237 RCV002228163 RCV000732693 RCV002477162 RCV001009386 RCV003474615

NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)

SNV
Germline

Chr7:117535377

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327627

rs_397508784

4 SubmittersRCV002281557 RCV000577019 RCV004566887

NM_000492.4(CFTR):c.743+1G>A

SNV
Germline

Chr7:117535412

Pathogenic

Cystic fibrosis
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327643

rs_397508791

5 SubmittersRCV000047246 RCV000347077 RCV003474616

NM_000492.4(CFTR):c.743+1G>C

SNV
Germline

Chr7:117535412

Pathogenic/Likely pathogenic

Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA327644

rs_397508791

6 SubmittersRCV001509316 RCV001831802 RCV003474617 RCV000047247

NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)

SNV
Germline

Chr7:117535411

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA327645

rs_397508792

4 SubmittersRCV000577458 RCV002228164

NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)

SNV
Germline

Chr7:117536576

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327648

rs_191456345

18 SubmittersRCV000047251 RCV000349995 RCV000588144 RCV000723753 RCV002281738 RCV003474618 RCV005031530 RCV005364935

NM_000492.4(CFTR):c.794T>G (p.Met265Arg)

SNV
Germline

Chr7:117536598

Conflicting classifications of pathogenicity

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA327651

rs_148519623

10 SubmittersRCV000671208 RCV001004238 RCV001811332 RCV001826698 RCV003474619 RCV005042151

NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)

SNV
Germline

Chr7:117504278

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA327653

rs_397508796

5 SubmittersRCV000577762

NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)

SNV
Germline

Chr7:117504278

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA327656

rs_397508796

8 SubmittersRCV000047257 RCV001831803 RCV003474620

NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)

SNV
Germline

Chr7:117504279

Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

CA327658

rs_397508797

3 SubmittersRCV000577538 RCV004566888

NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)

SNV
Germline

Chr7:117536632

Pathogenic

CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Reviewed By Expert Panel

CA327661

rs_397508799

6 SubmittersRCV001826699 RCV004566889 RCV000047263

NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)

SNV
Germline

Chr7:117536663

Conflicting classifications of pathogenicity

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
not specified

Criteria Provided
Conflicting Classifications

CA327669

rs_397508804

10 SubmittersRCV000577376 RCV001004240 RCV004589537 RCV003474621 RCV003478990

NM_000492.4(CFTR):c.868C>T (p.Gln290Ter)

SNV
Germline

Chr7:117536672

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA327674

rs_397508808

5 SubmittersRCV001009416 RCV001831806 RCV003474623

NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)

SNV
Germline

Chr7:117504287

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA327685

rs_397508815

4 SubmittersRCV000577040 RCV001826701

NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)

SNV
Germline

Chr7:117540120

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA203580

rs_143486492

18 SubmittersRCV000180169 RCV001311300 RCV000987959 RCV001165380

NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr7:117540142

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327687

rs_397508816

1 SubmittersRCV001009412

NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)

SNV
Germline

Chr7:117540156

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA327692

rs_397508818

9 SubmittersRCV000577190 RCV001826702 RCV000589328 RCV003230383

NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)

SNV
Germline

Chr7:117540171

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA327696

rs_75763344

13 SubmittersRCV001004243 RCV001826703 RCV000577297 RCV001093485 RCV005031531

NM_000492.4(CFTR):c.959T>A (p.Leu320Ter)

SNV
Germline

Chr7:117540189

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA327699

rs_397508820

1 SubmittersRCV001009414

NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)

SNV
Germline

Chr7:117548696

Conflicting classifications of pathogenicity

Condition: not provided
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450963

rs_201880593

6 SubmittersRCV000429132 RCV001158657 RCV001588894

NM_000492.4(CFTR):c.2769C>T (p.Ala923=)

SNV
Germline

Chr7:117603643

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA221014

rs_1800108

8 SubmittersRCV000855556 RCV001440746 RCV001588903 RCV000589671 RCV001826712

NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)

SNV
Germline

Chr7:117627617

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA221027

rs_146804928

7 SubmittersRCV000078998 RCV000666455 RCV000780156 RCV001831818

NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)

SNV
Germline

Chr7:117652865

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA175546

rs_1800131

19 SubmittersRCV000150339 RCV000590053 RCV001007581 RCV001158876 RCV002257405

NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)

SNV
Germline

Chr7:117666937

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA146704

rs_1800135

19 SubmittersRCV000079006 RCV000203821 RCV001705727 RCV001095182 RCV002255281

NM_000492.4(CFTR):c.164+2T>A

SNV
Germline

Chr7:117504365

Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA270746

rs_121908800

3 SubmittersRCV000144411

NM_000492.4(CFTR):c.830G>A (p.Trp277Ter)

SNV
Germline

Chr7:117536634

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA273036

rs_672601317

2 SubmittersRCV000149425

NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter)

SNV
Unknown

Chr7:117592610

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA273034

rs_672601316

1 SubmittersRCV000149424

NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys)

SNV
Unknown

Chr7:117603574

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA273030

rs_672601315

1 SubmittersRCV000149422

NM_000492.4(CFTR):c.3963+1G>A

SNV
Germline

Chr7:117652932

Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Single Submitter

CA273029

rs_672601314

2 SubmittersRCV000149421 RCV005031654

NM_000492.4(CFTR):c.1210-11T>G

SNV
Germline

Chr7:117548630

Pathogenic/Likely pathogenic; other

Condition: not provided
Cystic fibrosis
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
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA273555

rs_73715573

22 SubmittersRCV000381834 RCV000155471 RCV000309488 RCV001329936 RCV005359333 RCV005431500

NC_000007.14:g.117479634A>G

SNV
Germline

Chr7:117479634

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA274286

rs_185028612

8 SubmittersRCV000169416 RCV000593113 RCV004535148 RCV002257473

NM_000492.4(CFTR):c.3368-2A>G

SNV
Germline

Chr7:117614611

Pathogenic

Cystic fibrosis
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA273950

rs_755416052

11 SubmittersRCV000169111 RCV000781260 RCV001004496 RCV001835700 RCV003474898

NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)

SNV
Germline

Chr7:117548682

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA200678

rs_4727853

10 SubmittersRCV000224343 RCV000173697 RCV000366455 RCV001095146

NM_000492.4(CFTR):c.1365G>T (p.Ala455=)

SNV
Germline

Chr7:117548796

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA239132

rs_79074685

7 SubmittersRCV000173698 RCV000781283 RCV001480805 RCV001161866

NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)

SNV
Germline

Chr7:117548743

Conflicting classifications of pathogenicity

Condition: not provided
CFTR-related disorder
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA239134

rs_201434579

7 SubmittersRCV000436508 RCV000265349 RCV001589052 RCV002255311

NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)

SNV
Germline

Chr7:117592246

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA240239

rs_145540754

12 SubmittersRCV000174684 RCV000674884 RCV002469045 RCV004537370

NM_000492.4(CFTR):c.2736G>A (p.Ser912=)

SNV
Germline

Chr7:117603610

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA240842

rs_200901072

6 SubmittersRCV000175142 RCV001409458 RCV001290670 RCV004539624

NM_000492.4(CFTR):c.3024C>T (p.Val1008=)

SNV
Germline

Chr7:117610554

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA241137

rs_774643457

6 SubmittersRCV000175400 RCV001084008 RCV001163491

NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)

SNV
Germline

Chr7:117611726

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA241893

rs_1800118

20 SubmittersRCV000215556 RCV000232081 RCV000586681 RCV001095258 RCV002257477

NM_000492.4(CFTR):c.3747G>A (p.Gly1249=)

SNV
Germline

Chr7:117642467

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA242296

rs_794727373

3 SubmittersRCV000176370 RCV001400091

NM_000492.4(CFTR):c.3964-16T>C

SNV
Germline

Chr7:117664672

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA242520

rs_199672530

5 SubmittersRCV000176532 RCV001797664 RCV002056951

NM_000492.4(CFTR):c.1117-1G>A

SNV
Germline

Chr7:117542015

Pathogenic

Cystic fibrosis
not specified
CFTR-related disorder

Reviewed By Expert Panel

CA276114

rs_797045160

6 SubmittersRCV000191004 RCV000780165 RCV001828015

NM_000492.4(CFTR):c.2658-1G>C

SNV
Germline

Chr7:117603531

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA276109

rs_397508416

5 SubmittersRCV000190990 RCV001833133

NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)

SNV
Germline

Chr7:117611735

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA276112

rs_397508533

4 SubmittersRCV000191002 RCV001828014

NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)

SNV
Germline

Chr7:117642479

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA339250

rs_117400534

6 SubmittersRCV000200334 RCV000588931 RCV001163790

NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)

SNV
Germline

Chr7:117603774

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder
not specified
Hereditary pancreatitis
Infertility disorder
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA350158

rs_1800110

28 SubmittersRCV000206091 RCV000587447 RCV001160121 RCV000664323 RCV001762431 RCV001327945 RCV005031775 RCV003468932

NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)

SNV
Germline

Chr7:117592419

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA10581251

rs_397508357

8 SubmittersRCV000224113 RCV001002669 RCV001589163 RCV000675114 RCV003475048

NM_000492.4(CFTR):c.274-6T>C

SNV
Germline

Chr7:117530893

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4450698

rs_371315549

16 SubmittersRCV000231663 RCV000248062 RCV000590190 RCV001161754 RCV002257533

NM_000492.4(CFTR):c.744-6T>G

SNV
Germline

Chr7:117536542

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA10582463

rs_878854022

3 SubmittersRCV000233566

NM_000492.4(CFTR):c.927C>T (p.Ala309=)

SNV
Germline

Chr7:117540157

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4450866

rs_1800084

5 SubmittersRCV000248896 RCV000630466 RCV004999185

NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)

SNV
Germline

Chr7:117559616

Conflicting classifications of pathogenicity

not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451020

rs_747504631

5 SubmittersRCV000242196 RCV001589231 RCV001299089 RCV001828135

NM_000492.4(CFTR):c.1920T>C (p.Phe640=)

SNV
Germline

Chr7:117592087

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451112

rs_145877746

11 SubmittersRCV000242518 RCV000725286 RCV001087241 RCV001589232 RCV001835741

NM_000492.4(CFTR):c.2245C>T (p.Leu749=)

SNV
Germline

Chr7:117592412

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder
Obstructive azoospermia
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4451158

rs_151235408

16 SubmittersRCV000247513 RCV000586139 RCV001085588 RCV001163688 RCV001640481 RCV002255346

NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)

SNV
Germline

Chr7:117627538

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Condition: not provided
CFTR-related disorder
Obstructive azoospermia
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451484

rs_1800120

20 SubmittersRCV000248703 RCV000462037 RCV000726998 RCV001009501 RCV001640482 RCV005031832

NM_000492.4(CFTR):c.1227T>C (p.Phe409=)

SNV
Germline

Chr7:117548658

Conflicting classifications of pathogenicity

Condition: not provided
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450959

rs_778548877

6 SubmittersRCV000388212 RCV001828184 RCV001396160

NM_000492.4(CFTR):c.960A>G (p.Leu320=)

SNV
Germline

Chr7:117540190

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA10605106

rs_56093012

5 SubmittersRCV000323678 RCV001589320

NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)

SNV
Germline

Chr7:117611738

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451420

rs_747754623

10 SubmittersRCV000586297 RCV000668621 RCV001004492 RCV003475910 RCV004535369

NM_000492.4(CFTR):c.1679+1G>A

SNV
Germline

Chr7:117587834

Pathogenic

Condition: not provided
Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA10605596

rs_397508263

10 SubmittersRCV000292060 RCV000384098 RCV001833367 RCV003475911

NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)

SNV
Germline

Chr7:117592209

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4451133

rs_201295415

9 SubmittersRCV000378943 RCV001175035 RCV001273210 RCV002487246

NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)

SNV
Germline

Chr7:117666961

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451687

rs_761669740

9 SubmittersRCV000305714 RCV000374600 RCV000780148 RCV001095183

NM_000492.4(CFTR):c.1164G>A (p.Thr388=)

SNV
Germline

Chr7:117542063

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450913

rs_1800088

4 SubmittersRCV000327507 RCV001452905

NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)

SNV
Germline

Chr7:117665519

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451659

rs_79688066

8 SubmittersRCV000587227 RCV000855618 RCV001088231 RCV004537605

NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)

SNV
Germline

Chr7:117559570

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451011

rs_774945680

8 SubmittersRCV000373122 RCV000757859 RCV004543136

NM_000492.4(CFTR):c.663G>A (p.Ala221=)

SNV
Germline

Chr7:117535331

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4450796

rs_758147990

9 SubmittersRCV000333748 RCV001085150 RCV001828279 RCV002282112

NM_000492.4(CFTR):c.2559T>C (p.Ile853=)

SNV
Germline

Chr7:117594998

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4451225

rs_1800104

10 SubmittersRCV000281657 RCV000593086 RCV000781229 RCV002257658

NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)

SNV
Germline

Chr7:117664693

Conflicting classifications of pathogenicity

CFTR-related disorder
not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA10625183

rs_886061952

4 SubmittersRCV000399274 RCV002509373 RCV001442066

NM_000492.4(CFTR):c.56G>A (p.Trp19Ter)

SNV
Unknown

Chr7:117504255

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA16041124

rs_1057516232

1 SubmittersRCV000411729

NM_000492.4(CFTR):c.744-2A>G

SNV
Germline

Chr7:117536546

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA16041126

rs_1057516646

5 SubmittersRCV000411056

NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)

SNV
Unknown

Chr7:117536669

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

CA16041127

rs_1057516619

2 SubmittersRCV000410831 RCV003475952

NM_000492.4(CFTR):c.1209+1G>T

SNV
Germline

Chr7:117542109

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041129

rs_397508176

6 SubmittersRCV000409393 RCV003475957

NM_000492.4(CFTR):c.2490+2T>C

SNV
Germline

Chr7:117592659

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Fetal cystic hygroma
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA16041132

rs_1057516216

8 SubmittersRCV003475936 RCV000411517 RCV001526623 RCV001835787 RCV005033910

NM_000492.4(CFTR):c.3368-2A>T

SNV
Germline

Chr7:117614611

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4451451

rs_755416052

4 SubmittersRCV000409745 RCV001004497 RCV003475967

NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter)

SNV
Unknown

Chr7:117627586

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA16041137

rs_1057516609

1 SubmittersRCV000411279

NM_000492.4(CFTR):c.3963+1G>C

SNV
Germline

Chr7:117652932

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA16041139

rs_672601314

2 SubmittersRCV000411114

NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter)

SNV
Unknown

Chr7:117665465

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA16041141

rs_397508683

1 SubmittersRCV000412126

NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)

SNV
Germline

Chr7:117666937

Pathogenic/Likely pathogenic

Cystic fibrosis
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA16041142

rs_1800135

4 SubmittersRCV000410428 RCV000781255

NM_000492.4(CFTR):c.3276C>R (p.Tyr1092Ter)

SNV
Germline

Chr7:117611717

Pathogenic

Cystic fibrosis

No Assertion Criteria Provided

rs_121908761

1 SubmittersRCV000119251

NM_000492.4(CFTR):c.393T>C (p.Phe131=)

SNV
Germline

Chr7:117531018

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA16612013

rs_1039221071

5 SubmittersRCV000735022 RCV001467061 RCV001833601

NM_000492.4(CFTR):c.489+8T>G

SNV
Germline

Chr7:117531122

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA4450733

rs_727504712

7 SubmittersRCV000731938 RCV001081023 RCV003226301

NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)

SNV
Germline

Chr7:117548795

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4450977

rs_74551128

9 SubmittersRCV000474081 RCV000729714 RCV001193705 RCV004539954

NM_000492.4(CFTR):c.2908+1G>A

SNV
Germline

Chr7:117603783

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16612092

rs_1060503164

6 SubmittersRCV000465662 RCV001828481 RCV003230503 RCV003476096

NM_000492.4(CFTR):c.1734A>G (p.Leu578=)

SNV
Germline

Chr7:117590407

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612171

rs_201025424

5 SubmittersRCV000458097 RCV000781265 RCV001828494 RCV004791490

NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)

SNV
Germline

Chr7:117667022

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided
Hereditary pancreatitis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA4451697

rs_4148725

17 SubmittersRCV000456157 RCV001002200 RCV000507912 RCV002255397 RCV001160218 RCV005044693

NM_000492.4(CFTR):c.1679+9C>G

SNV
Germline

Chr7:117587842

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451055

rs_775440240

8 SubmittersRCV000456154 RCV001508585 RCV001591125 RCV003387851 RCV004735555

NC_000007.14:g.117479647A>G

SNV
Germline

Chr7:117479647

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164948506

rs_943663200

6 SubmittersRCV000506125 RCV000731968 RCV000666667

NM_000492.4(CFTR):c.273+8T>A

SNV
Germline

Chr7:117509150

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA645509187

rs_1189108407

4 SubmittersRCV000507185 RCV001785644

NM_000492.4(CFTR):c.869+8G>C

SNV
Germline

Chr7:117536681

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA645509179

rs_773933167

2 SubmittersRCV000508316 RCV003507287

NM_000492.4(CFTR):c.2490+14G>T

SNV
Germline

Chr7:117592671

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451194

rs_573016418

6 SubmittersRCV000506735 RCV000586509 RCV001396157

NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)

SNV
Germline

Chr7:117611645

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451408

rs_1800116

5 SubmittersRCV000508336 RCV000547756 RCV001163496

NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)

SNV
Germline

Chr7:117614674

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451459

rs_375845215

7 SubmittersRCV000507700 RCV000863415 RCV001163785

NM_000492.4(CFTR):c.4243-20A>G

SNV
Germline

Chr7:117666888

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4451673

rs_138025486

9 SubmittersRCV000586481 RCV000664604 RCV001778983 RCV004541576 RCV002255421

NM_000492.4(CFTR):c.3140-33A>G

SNV
Germline

Chr7:117611548

Conflicting classifications of pathogenicity

not specified
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4451397

rs_373016758

3 SubmittersRCV000508317 RCV004535636 RCV005000055

NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)

SNV
Germline

Chr7:117591948

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368977794

rs_1554389245

2 SubmittersRCV000536733

NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)

SNV
Germline

Chr7:117610592

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368990667

rs_1554392023

4 SubmittersRCV000536207 RCV005034082

NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)

SNV
Germline

Chr7:117614713

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4451462

rs_139729994

9 SubmittersRCV000538933 RCV001163786 RCV002509422 RCV003144315

NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)

SNV
Germline

Chr7:117504256

Pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Reviewed By Expert Panel

CA368986807

rs_397508762

4 SubmittersRCV000576462 RCV001283974 RCV001829608

NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)

SNV
Germline

Chr7:117587801

Pathogenic

Cystic fibrosis
Hereditary pancreatitis

Reviewed By Expert Panel

CA368976076

rs_121909005

3 SubmittersRCV000576753 RCV002248790

NM_000492.4(CFTR):c.3468+5G>A

SNV
Germline

Chr7:117614718

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA658657706

rs_1554392801

1 SubmittersRCV000576693

NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)

SNV
Germline

Chr7:117664712

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Reviewed By Expert Panel

CA368981990

rs_375661578

6 SubmittersRCV000576660 RCV003471914 RCV005255605

NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)

SNV
Germline

Chr7:117542040

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA368979924

rs_1554381605

3 SubmittersRCV000583796 RCV001004256

NM_000492.4(CFTR):c.360G>A (p.Ala120=)

SNV
Germline

Chr7:117530985

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA500005

rs_1800077

11 SubmittersRCV000585052 RCV001086348 RCV001163271 RCV000855619

NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)

SNV
Germline

Chr7:117540282

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4450882

rs_1800086

7 SubmittersRCV000590589 RCV000757084 RCV001785669 RCV001829618

NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)

SNV
Germline

Chr7:117548650

Pathogenic/Likely pathogenic

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
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368981306

rs_766063304

7 SubmittersRCV000586160 RCV001829620 RCV004568305 RCV005044871 RCV005416375

NM_000492.4(CFTR):c.3368-20C>T

SNV
Germline

Chr7:117614593

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451447

rs_761144879

6 SubmittersRCV000588513 RCV000985691 RCV001785672

NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)

SNV
Germline

Chr7:117559465

Pathogenic/Likely pathogenic

Condition: not provided
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4451001

rs_758900656

7 SubmittersRCV000586527 RCV001003496 RCV001004450 RCV003471939

NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)

SNV
Germline

Chr7:117559642

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368984990

rs_1554384440

5 SubmittersRCV000585951 RCV000673111

NM_000492.4(CFTR):c.273G>C (p.Gly91=)

SNV
Germline

Chr7:117509142

Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA457225729

rs_773739166

3 SubmittersRCV000587955 RCV005606678

NM_000492.4(CFTR):c.571T>G (p.Phe191Val)

SNV
Germline

Chr7:117534357

Pathogenic

Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
CFTR-related disorder
not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis

Reviewed By Expert Panel

CA4450757

rs_141482808

15 SubmittersRCV000587145 RCV001004436 RCV000757856 RCV002281577 RCV001002123 RCV002232555 RCV003471942 RCV005034155

NM_000492.4(CFTR):c.870-2A>G

SNV
Germline

Chr7:117540098

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368977807

rs_1290078234

8 SubmittersRCV000587438 RCV004530643 RCV003159994 RCV003471943

NM_000492.4(CFTR):c.2526A>G (p.Ala842=)

SNV
Germline

Chr7:117594965

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA4451217

rs_758128209

4 SubmittersRCV001393523 RCV005240261

NM_000492.4(CFTR):c.3874-2A>G

SNV
Germline

Chr7:117652840

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977804

rs_1554396384

1 SubmittersRCV000589248

NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)

SNV
Germline

Chr7:117610598

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4451372

rs_756219310

5 SubmittersRCV001226278 RCV003471940

NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)

SNV
Germline

Chr7:117627725

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451513

rs_371475225

10 SubmittersRCV000588038 RCV000855591 RCV001785673 RCV001829624

NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)

SNV
Germline

Chr7:117611715

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA4451415

rs_376968326

11 SubmittersRCV000588214 RCV000779527 RCV001293419 RCV001829623 RCV002476275

NM_000492.4(CFTR):c.4197C>T (p.Leu1399=)

SNV
Germline

Chr7:117665519

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451660

rs_79688066

3 SubmittersRCV000594993 RCV001421106

NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)

SNV
Germline

Chr7:117627570

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

CA4451489

rs_368393738

9 SubmittersRCV000594547 RCV001245034 RCV001834866 RCV002491175 RCV003994036

NM_000492.4(CFTR):c.2658-2A>G

SNV
Germline

Chr7:117603530

Pathogenic/Likely pathogenic

Condition: not provided
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368986369

rs_1554390958

4 SubmittersRCV000594282 RCV000757832 RCV004568313

NM_000492.4(CFTR):c.3718-24G>A

SNV
Germline

Chr7:117642414

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451535

rs_374013084

7 SubmittersRCV000594601 RCV001085769 RCV004530687

NM_000492.4(CFTR):c.2544A>T (p.Thr848=)

SNV
Germline

Chr7:117594983

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451219

rs_751242146

3 SubmittersRCV000592136 RCV002431749

NM_000492.4(CFTR):c.3874-4522A>G

SNV
Germline

Chr7:117648320

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA164950171

rs_895394181

14 SubmittersRCV000597152 RCV000665784 RCV001009398 RCV003471958 RCV004530697 RCV005044889

NM_000492.4(CFTR):c.4332C>T (p.Ser1444=)

SNV
Germline

Chr7:117666997

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164961818

rs_779359608

3 SubmittersRCV000592174 RCV001445668

NM_000492.4(CFTR):c.2619+1G>A

SNV
Germline

Chr7:117595059

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368984120

rs_1554389836

2 SubmittersRCV005407784 RCV000597612

NM_000492.4(CFTR):c.94C>A (p.Leu32Met)

SNV
Germline

Chr7:117504293

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA4450635

rs_776797377

7 SubmittersRCV000598321 RCV000670047 RCV004525980

NM_000492.4(CFTR):c.1210-15G>T

SNV
Germline

Chr7:117548626

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450944

rs_947648829

2 SubmittersRCV000592499 RCV003507301

NM_000492.4(CFTR):c.3772T>C (p.Leu1258=)

SNV
Germline

Chr7:117642492

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164947580

rs_202074317

3 SubmittersRCV000597997 RCV002350432

NC_000007.14:g.117675861C>T

SNV
Germline

Chr7:117675861

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA658796996

rs_1554398510

1 SubmittersRCV000625819

NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)

SNV
Germline

Chr7:117664821

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4451629

rs_200955612

10 SubmittersRCV000630457 RCV001009486 RCV001726278 RCV003230560

NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)

SNV
Germline

Chr7:117592422

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451162

rs_766541549

5 SubmittersRCV000630459 RCV001311301 RCV001834987

NM_000492.4(CFTR):c.489+10C>G

SNV
Germline

Chr7:117531124

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA577670748

rs_1447914513

4 SubmittersRCV001478093 RCV001163276

NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe)

SNV
Germline

Chr7:117559590

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984708

rs_1801178

1 SubmittersRCV000630461

NM_000492.4(CFTR):c.2620-2A>G

SNV
Germline

Chr7:117602824

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368985845

rs_1554390859

3 SubmittersRCV000630456 RCV001834985

NM_000492.4(CFTR):c.445G>T (p.Gly149Ter)

SNV
Unknown

Chr7:117531070

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368974916

rs_397508718

1 SubmittersRCV000670963

NM_000492.4(CFTR):c.835G>T (p.Glu279Ter)

SNV
Unknown

Chr7:117536639

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368977517

rs_1199914684

1 SubmittersRCV000670132

NM_000492.4(CFTR):c.1209+80G>A

SNV
Germline

Chr7:117542188

Conflicting classifications of pathogenicity

Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA164955924

rs_948980243

3 SubmittersRCV000665651 RCV002257922

NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)

SNV
Germline

Chr7:117548732

Pathogenic

Cystic fibrosis
CFTR-related disorder

Reviewed By Expert Panel

CA368981821

rs_367934560

7 SubmittersRCV000670033 RCV001830445

NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)

SNV
Germline

Chr7:117548762

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4450975

rs_397508191

11 SubmittersRCV000667171 RCV001829842 RCV001844212 RCV000731055

NM_000492.4(CFTR):c.1680-1G>C

SNV
Germline

Chr7:117590352

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368976984

rs_121908794

3 SubmittersRCV000664670

NM_000492.4(CFTR):c.1767-1G>A

SNV
Unknown

Chr7:117591933

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368977709

rs_1554389241

1 SubmittersRCV000669783

NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)

SNV
Germline

Chr7:117592050

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368978613

rs_1554389290

4 SubmittersRCV000671291

NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)

SNV
Germline

Chr7:117627676

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA4451508

rs_746103666

6 SubmittersRCV000665155 RCV002254303 RCV004526737 RCV005034236

NM_000492.4(CFTR):c.3873+1G>T

SNV
Germline

Chr7:117642594

Likely pathogenic

Cystic fibrosis
Condition: not provided

Criteria Provided
Single Submitter

CA368975667

rs_143570767

2 SubmittersRCV000667014 RCV003480754

NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)

SNV
Germline

Chr7:117666962

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368984671

rs_750559671

4 SubmittersRCV000674872 RCV001004309 RCV003472175

NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)

SNV
Germline

Chr7:117534344

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA368976532

rs_397508753

6 SubmittersRCV000675021 RCV001193645 RCV003472180 RCV005046913

NM_000492.4(CFTR):c.-34C>T

SNV
Germline

Chr7:117480061

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA4450589

rs_756314710

4 SubmittersRCV000667976 RCV004796272

NM_000492.4(CFTR):c.1117-2A>G

SNV
Germline

Chr7:117542014

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979756

rs_1554381596

2 SubmittersRCV000669585

NM_000492.4(CFTR):c.1680-883A>G

SNV
Germline

Chr7:117589470

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA658822497

rs_1554388867

2 SubmittersRCV000672576

NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)

SNV
Germline

Chr7:117530930

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA4450702

rs_397508490

6 SubmittersRCV000669903

NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)

SNV
Germline

Chr7:117530953

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974385

rs_113993958

2 SubmittersRCV000668886

NM_000492.4(CFTR):c.2491-2A>C

SNV
Unknown

Chr7:117594928

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368983756

rs_397508386

1 SubmittersRCV000669781

NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)

SNV
Germline

Chr7:117535410

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA368977225

rs_1554380515

6 SubmittersRCV000671274 RCV001002407 RCV001509315

NM_000492.4(CFTR):c.3963+2T>G

SNV
Unknown

Chr7:117652933

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368978729

rs_397508650

1 SubmittersRCV000670493

NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)

SNV
Germline

Chr7:117664821

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA368982825

rs_200955612

4 SubmittersRCV000666972

NM_000492.4(CFTR):c.4243-2A>G

SNV
Germline

Chr7:117666906

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA368984343

rs_397508705

5 SubmittersRCV000668313 RCV004721538 RCV001004308 RCV003472099

NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)

SNV
Germline

Chr7:117666937

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984510

rs_1800135

2 SubmittersRCV000670985

NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)

SNV
Germline

Chr7:117548783

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA368982277

rs_1554382653

4 SubmittersRCV000669047 RCV004702286 RCV004702287 RCV005034250

NM_000492.4(CFTR):c.869+3A>T

SNV
Germline

Chr7:117536676

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA658821276

rs_1554380828

4 SubmittersRCV000665947

NM_000492.4(CFTR):c.869+5G>A

SNV
Germline

Chr7:117536678

Pathogenic/Likely pathogenic

not specified
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4450845

rs_533959068

9 SubmittersRCV000781277 RCV004535680 RCV003472096 RCV000668284

NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)

SNV
Germline

Chr7:117559651

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA4451025

rs_374453187

6 SubmittersRCV000667996 RCV003472092 RCV003117470 RCV001004461

NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter)

SNV
Unknown

Chr7:117667029

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368985134

rs_121909043

1 SubmittersRCV000671423

NM_000492.4(CFTR):c.870-1G>C

SNV
Germline

Chr7:117540099

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Single Submitter

CA368977818

rs_1351058559

2 SubmittersRCV000670583 RCV001004241

NM_000492.4(CFTR):c.1766+2T>A

SNV
Germline

Chr7:117590441

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368977307

rs_1554389062

7 SubmittersRCV000673591 RCV000735037 RCV001830459 RCV002485561 RCV004568556

NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)

SNV
Germline

Chr7:117548800

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA368982464

rs_1554382664

7 SubmittersRCV000669800 RCV001835909

NM_000492.4(CFTR):c.2657+17C>T

SNV
Germline

Chr7:117602880

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451253

rs_368543375

4 SubmittersRCV000673000 RCV000969714 RCV004544932

NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)

SNV
Germline

Chr7:117610591

Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4451370

rs_397508491

3 SubmittersRCV000665519

NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)

SNV
Germline

Chr7:117590370

Conflicting classifications of pathogenicity

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA368977074

rs_1375786834

3 SubmittersRCV000672145 RCV003472145

NM_000492.4(CFTR):c.1766+2T>C

SNV
Germline

Chr7:117590441

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368977305

rs_1554389062

4 SubmittersRCV000674906 RCV004568572

NM_000492.4(CFTR):c.3468+1G>A

SNV
Unknown

Chr7:117614714

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368993767

rs_1554392798

1 SubmittersRCV000666552

NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter)

SNV
Unknown

Chr7:117592562

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368981119

rs_984281283

1 SubmittersRCV000668339

NM_000492.4(CFTR):c.2907A>C (p.Ala969=)

SNV
Germline

Chr7:117603781

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451308

rs_377502207

5 SubmittersRCV000664492 RCV004533460

NM_000492.4(CFTR):c.2988+1G>C

SNV
Unknown

Chr7:117606754

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368989257

rs_75096551

1 SubmittersRCV000674995

NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)

SNV
Germline

Chr7:117531035

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164943766

rs_397508674

6 SubmittersRCV000706337

NM_000492.4(CFTR):c.613C>A (p.Pro205Thr)

SNV
Germline

Chr7:117535281

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368976821

rs_121908803

1 SubmittersRCV000706499

NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)

SNV
Germline

Chr7:117611730

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451418

rs_201591901

7 SubmittersRCV000759038 RCV001079628 RCV004735752

NM_000492.4(CFTR):c.3368-4A>G

SNV
Germline

Chr7:117614609

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164968679

rs_748811222

3 SubmittersRCV000728095 RCV001407781

NM_000492.4(CFTR):c.2736G>C (p.Ser912=)

SNV
Germline

Chr7:117603610

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451280

rs_200901072

4 SubmittersRCV000728887 RCV001487014

NM_000492.4(CFTR):c.3873+7A>T

SNV
Germline

Chr7:117642600

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451562

rs_752993761

3 SubmittersRCV000729377 RCV002535118

NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)

SNV
Germline

Chr7:117642572

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451557

rs_547248892

3 SubmittersRCV000729989 RCV001193707 RCV002360853

NM_000492.4(CFTR):c.1047G>A (p.Ala349=)

SNV
Germline

Chr7:117540277

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA4450881

rs_200520623

3 SubmittersRCV000730906 RCV003165970 RCV003330927

NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn)

SNV
Germline

Chr7:117667048

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368985207

rs_1562929623

3 SubmittersRCV000731008 RCV002536456

NM_000492.4(CFTR):c.489+87A>G

SNV
Germline

Chr7:117531201

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164943916

rs_969399514

3 SubmittersRCV000731922 RCV002485906 RCV002535244

NM_000492.4(CFTR):c.688C>T (p.Leu230=)

SNV
Germline

Chr7:117535356

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457227208

rs_201410793

3 SubmittersRCV000732862 RCV002360858

NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)

SNV
Germline

Chr7:117603730

Conflicting classifications of pathogenicity

Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA4451300

rs_151048781

9 SubmittersRCV000732881 RCV001194371 RCV001220157 RCV005047002

NM_000492.4(CFTR):c.1446T>A (p.Ile482=)

SNV
Germline

Chr7:117559517

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164967692

rs_914422460

4 SubmittersRCV000733077 RCV001192432 RCV001592936

NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)

SNV
Germline

Chr7:117610566

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA4451367

rs_537934752

4 SubmittersRCV000733457 RCV001475018 RCV005240519

NM_000492.4(CFTR):c.869+1G>C

SNV
Germline

Chr7:117536674

Pathogenic/Likely pathogenic

Condition: not provided
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977594

rs_1330431481

4 SubmittersRCV000733662 RCV002442558 RCV003472268 RCV005431909

NM_000492.4(CFTR):c.561C>T (p.Asn187=)

SNV
Germline

Chr7:117534347

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457226723

rs_397508754

3 SubmittersRCV000734048 RCV002061018

NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)

SNV
Germline

Chr7:117642566

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4451556

rs_77010898

8 SubmittersRCV000734691 RCV001785716 RCV001830642 RCV005036074

NM_000492.4(CFTR):c.2055A>G (p.Gln685=)

SNV
Germline

Chr7:117592222

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA457449022

rs_1457520634

6 SubmittersRCV000734865 RCV001400577 RCV004782537

NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)

SNV
Germline

Chr7:117627641

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA457231400

rs_759202870

6 SubmittersRCV000735009 RCV001087984 RCV002282351 RCV004540075

NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala)

SNV
Germline

Chr7:117590373

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368977086

rs_1562907186

2 SubmittersRCV000755915 RCV002406676

NM_000492.4(CFTR):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr7:117480096

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981126

rs_397508476

1 SubmittersRCV000757833

NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)

SNV
Unknown

Chr7:117509035

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368972106

rs_397508256

1 SubmittersRCV000757827

NM_000492.4(CFTR):c.274-2A>C

SNV
Germline

Chr7:117530897

Pathogenic/Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368974171

rs_397508426

4 SubmittersRCV000757813 RCV001825502

NM_000492.4(CFTR):c.325T>C (p.Tyr109His)

SNV
Unknown

Chr7:117530950

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974380

rs_397508522

1 SubmittersRCV000757788

NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)

SNV
Germline

Chr7:117531098

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4450730

rs_397508725

11 SubmittersRCV000757874 RCV001835951 RCV004576966 RCV003472278 RCV005036084

NM_000492.4(CFTR):c.490-1G>T

SNV
Unknown

Chr7:117534275

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368976294

rs_397508734

1 SubmittersRCV000757846

NM_000492.4(CFTR):c.580-2A>C

SNV
Germline

Chr7:117535246

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368976686

rs_193922730

3 SubmittersRCV000757810 RCV003465677

NM_000492.4(CFTR):c.869+1G>T

SNV
Unknown

Chr7:117536674

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977595

rs_1330431481

1 SubmittersRCV000757850

NM_000492.4(CFTR):c.950T>A (p.Val317Glu)

SNV
Unknown

Chr7:117540180

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368978447

rs_1204521684

1 SubmittersRCV000757786

NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)

SNV
Germline

Chr7:117540275

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368978884

rs_1562892293

2 SubmittersRCV000757785

NM_000492.4(CFTR):c.1116+1G>T

SNV
Unknown

Chr7:117540347

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979129

rs_397508158

1 SubmittersRCV000757820

NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)

SNV
Unknown

Chr7:117542025

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979815

rs_1562892823

1 SubmittersRCV000757821

NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)

SNV
Germline

Chr7:117548732

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA164960291

rs_367934560

5 SubmittersRCV000757852 RCV001004259

NM_000492.4(CFTR):c.1317T>G (p.Pro439=)

SNV
Germline

Chr7:117548748

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457227846

rs_1562895052

2 SubmittersRCV000757858

NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser)

SNV
Unknown

Chr7:117559576

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984642

rs_397508222

1 SubmittersRCV000757790

NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg)

SNV
Unknown

Chr7:117559596

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984742

rs_1562898465

1 SubmittersRCV000757791

NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys)

SNV
Unknown

Chr7:117559621

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984867

rs_1562898496

1 SubmittersRCV000757826

NM_000492.4(CFTR):c.1559T>A (p.Val520Asp)

SNV
Unknown

Chr7:117559630

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984911

rs_1562898510

1 SubmittersRCV000757793

NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys)

SNV
Germline

Chr7:117587808

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA368976108

rs_76554633

2 SubmittersRCV000757794 RCV004526767

NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)

SNV
Germline

Chr7:117590360

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977018

rs_121909006

2 SubmittersRCV000757828

NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser)

SNV
Unknown

Chr7:117590433

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977294

rs_1562907260

1 SubmittersRCV000757795

NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)

SNV
Unknown

Chr7:117592103

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368978891

rs_1562907873

1 SubmittersRCV000757805

NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)

SNV
Unknown

Chr7:117592643

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981594

rs_397508381

1 SubmittersRCV000757831

NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)

SNV
Unknown

Chr7:117610562

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368990512

rs_1562914107

1 SubmittersRCV000757834

NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)

SNV
Germline

Chr7:117610637

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368990798

rs_397508498

5 SubmittersRCV000757881 RCV001004292 RCV003472279

NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)

SNV
Unknown

Chr7:117610640

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368990802

rs_1562914200

1 SubmittersRCV000757835

NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)

SNV
Germline

Chr7:117611629

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368992007

rs_1562914641

2 SubmittersRCV000757836

NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)

SNV
Germline

Chr7:117611735

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Reviewed By Expert Panel

CA368992416

rs_397508533

5 SubmittersRCV000757800 RCV001004306

NM_000492.4(CFTR):c.3367+1G>A

SNV
Germline

Chr7:117611809

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368992637

rs_1470125842

4 SubmittersRCV000757839

NM_000492.4(CFTR):c.3367+2T>A

SNV
Unknown

Chr7:117611810

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368992640

rs_397508544

1 SubmittersRCV000757815

NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)

SNV
Unknown

Chr7:117642448

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974444

rs_1562923164

1 SubmittersRCV000757841

NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)

SNV
Germline

Chr7:117642459

Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368974490

rs_397508601

3 SubmittersRCV000757796

NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)

SNV
Unknown

Chr7:117642465

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974518

rs_397508602

1 SubmittersRCV000757851

NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)

SNV
Germline

Chr7:117652893

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA164952756

rs_193922732

3 SubmittersRCV000757842

NM_000492.4(CFTR):c.4136+1G>A

SNV
Germline

Chr7:117664861

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368983181

rs_1562928997

4 SubmittersRCV000757809 RCV004569422

NM_000492.4(CFTR):c.4242+5G>A

SNV
Germline

Chr7:117665569

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA913189949

rs_1562929196

2 SubmittersRCV000757797 RCV002282354

NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)

SNV
Germline

Chr7:117590397

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA4451072

rs_773569201

10 SubmittersRCV000759033 RCV000803536 RCV002233757 RCV001592944 RCV003472280

NM_000492.4(CFTR):c.1585-9395C>G

SNV
Germline

Chr7:117578344

Conflicting classifications of pathogenicity

Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA164942053

rs_77164005

3 SubmittersRCV000759757 RCV004540084

NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)

SNV
Germline

Chr7:117592146

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368979116

rs_1562907896

2 SubmittersRCV000780129

NM_000492.4(CFTR):c.2280G>A (p.Thr760=)

SNV
Germline

Chr7:117592447

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451166

rs_138634146

5 SubmittersRCV000781288 RCV001411256

NM_000492.4(CFTR):c.869+8G>T

SNV
Germline

Chr7:117536681

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450846

rs_773933167

5 SubmittersRCV000780131 RCV001272233

NM_000492.4(CFTR):c.2988+1G>T

SNV
Germline

Chr7:117606754

Pathogenic/Likely pathogenic

not specified
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA368989259

rs_75096551

3 SubmittersRCV000780170 RCV002535668 RCV005036112

NM_000492.4(CFTR):c.3717+1G>A

SNV
Germline

Chr7:117627771

Pathogenic/Likely pathogenic

not specified
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4451520

rs_750558115

5 SubmittersRCV000780151 RCV001830671 RCV001009420

NM_000492.4(CFTR):c.4243-16A>G

SNV
Germline

Chr7:117666892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451674

rs_780125251

5 SubmittersRCV000780110 RCV003736905 RCV004540097 RCV002536862

NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)

SNV
Germline

Chr7:117480138

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
not specified

Reviewed By Expert Panel

CA368981338

rs_1562876459

7 SubmittersRCV000785636 RCV003472322 RCV004792461 RCV001000710

NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser)

SNV
Germline

Chr7:117548789

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA368982327

rs_1562895128

1 SubmittersRCV000785638

NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)

SNV
Germline

Chr7:117559491

Pathogenic

Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis

Reviewed By Expert Panel

CA164967631

rs_756206533

4 SubmittersRCV000785640 RCV005036116

NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)

SNV
Germline

Chr7:117642526

Pathogenic

Cystic fibrosis

Reviewed By Expert Panel

CA368975073

rs_1562923253

4 SubmittersRCV000785635

NM_000492.4(CFTR):c.1116G>T (p.Gln372His)

SNV
Germline

Chr7:117540346

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979127

rs_1584789514

1 SubmittersRCV000790623

NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter)

SNV
Germline

Chr7:117548755

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368982007

rs_1584793546

1 SubmittersRCV000820702

NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)

SNV
Germline

Chr7:117559641

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164967837

rs_368516826

5 SubmittersRCV000816454

NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)

SNV
Germline

Chr7:117603631

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368986670

rs_1408746819

3 SubmittersRCV000821361

NM_000492.4(CFTR):c.743+2T>C

SNV
Germline

Chr7:117535413

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977235

rs_1584787119

1 SubmittersRCV000799947

NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr)

SNV
Germline

Chr7:117548822

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368982595

rs_1584793633

1 SubmittersRCV000855425

NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter)

SNV
Germline

Chr7:117595039

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984044

rs_397508404

1 SubmittersRCV000855427

NM_000492.4(CFTR):c.1518C>A (p.Ile506=)

SNV
Germline

Chr7:117559589

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA4451014

rs_1800092

4 SubmittersRCV000865586 RCV001405872 RCV001593079

NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe)

SNV
Germline

Chr7:117591997

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368978234

rs_1048183757

2 SubmittersRCV000866930

NM_000492.4(CFTR):c.417C>T (p.His139=)

SNV
Germline

Chr7:117531042

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450719

rs_760281820

4 SubmittersRCV001163273 RCV000874811

NM_000492.4(CFTR):c.449T>A (p.Met150Lys)

SNV
Germline

Chr7:117531074

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368974943

rs_1562889397

3 SubmittersRCV000985695 RCV002284450

NM_000492.4(CFTR):c.892A>T (p.Lys298Ter)

SNV
Germline

Chr7:117540122

Pathogenic/Likely pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977969

rs_1584789180

2 SubmittersRCV000985698 RCV001062588

NM_000492.4(CFTR):c.1275T>C (p.Asp425=)

SNV
Germline

Chr7:117548706

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457227821

rs_1562895009

3 SubmittersRCV000985674 RCV002067569

NM_000492.4(CFTR):c.1377C>T (p.Ser459=)

SNV
Germline

Chr7:117548808

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450978

rs_749599371

2 SubmittersRCV000985675 RCV004030101

NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)

SNV
Germline

Chr7:117611760

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA368992523

rs_1584822486

5 SubmittersRCV000985689 RCV001048194 RCV001004495 RCV001832299 RCV004689941

NM_000492.4(CFTR):c.579+1G>A

SNV
Germline

Chr7:117534366

Pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368976627

rs_77188391

3 SubmittersRCV000985696 RCV003989613

NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)

SNV
Unknown

Chr7:117536667

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977579

rs_1584787782

1 SubmittersRCV000987958

NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)

SNV
Unknown

Chr7:117665547

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368983766

rs_397508699

1 SubmittersRCV000987966

NM_000492.4(CFTR):c.127G>A (p.Val43Ile)

SNV
Germline

Chr7:117504326

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4450642

rs_370586917

10 SubmittersRCV001002488 RCV001246599 RCV001161751 RCV002497321 RCV003478604

NM_000492.4(CFTR):c.1210-6T>A

SNV
Germline

Chr7:117548635

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4450953

rs_763339686

4 SubmittersRCV001000391 RCV002354915 RCV004796341 RCV004545005

NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)

SNV
Germline

Chr7:117592595

Pathogenic

not specified
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368981244

rs_377447726

3 SubmittersRCV001001123 RCV001056339

NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)

SNV
Germline

Chr7:117509122

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368972280

rs_1584776437

3 SubmittersRCV001004233 RCV002549236

NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)

SNV
Germline

Chr7:117642516

Pathogenic/Likely pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368974987

rs_1584837090

4 SubmittersRCV001004508 RCV003467573 RCV003317413

NM_000492.4(CFTR):c.808C>T (p.Gln270Ter)

SNV
Germline

Chr7:117536612

Pathogenic

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977456

rs_1584787716

2 SubmittersRCV001009418 RCV005036276

NM_000492.4(CFTR):c.874G>T (p.Glu292Ter)

SNV
Germline

Chr7:117540104

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977848

rs_397508811

3 SubmittersRCV001009411

NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)

SNV
Germline

Chr7:117592232

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368979522

rs_1584812425

2 SubmittersRCV001009460 RCV004569855

NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr7:117592466

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980912

rs_1584812646

1 SubmittersRCV001009457

NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter)

SNV
Germline

Chr7:117594995

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA368983949

rs_1584813819

1 SubmittersRCV001009529

NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter)

SNV
Germline

Chr7:117642558

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368975391

rs_1584837173

2 SubmittersRCV001009419

NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter)

SNV
Germline

Chr7:117664775

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368982605

rs_397508666

1 SubmittersRCV001009427

NM_000492.4(CFTR):c.165-2A>C

SNV
Germline

Chr7:117509032

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368972099

rs_397508250

1 SubmittersRCV001009431

NM_000492.4(CFTR):c.490-3T>G

SNV
Germline

Chr7:117534273

Pathogenic

CFTR-related disorder

Criteria Provided
Single Submitter

CA915945474

rs_1584786373

1 SubmittersRCV001009492

NM_000492.4(CFTR):c.1209+2T>G

SNV
Germline

Chr7:117542110

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980333

rs_1584790302

1 SubmittersRCV001009435

NM_000492.4(CFTR):c.2989-313A>T

SNV
Germline

Chr7:117610206

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA915945434

rs_1584821306

3 SubmittersRCV001009397 RCV001860603

NM_000492.4(CFTR):c.3468+2T>C

SNV
Germline

Chr7:117614715

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368993778

rs_1584824301

1 SubmittersRCV001009403

NM_000492.4(CFTR):c.3963+69A>G

SNV
Germline

Chr7:117653000

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164952938

rs_540577876

2 SubmittersRCV001009336

NM_000492.4(CFTR):c.4136+5G>A

SNV
Germline

Chr7:117664865

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA915945457

rs_1584849005

3 SubmittersRCV001009421 RCV001832329

NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)

SNV
Germline

Chr7:117535393

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450809

rs_758012554

3 SubmittersRCV001213817

NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)

SNV
Germline

Chr7:117592193

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451129

rs_762888022

4 SubmittersRCV001242641 RCV004528337

NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)

SNV
Germline

Chr7:117667032

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA164961910

rs_983279303

3 SubmittersRCV001273348

NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)

SNV
Germline

Chr7:117667098

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4451708

rs_753173837

4 SubmittersRCV001862220 RCV001827205 RCV003331023

NM_000492.4(CFTR):c.487A>G (p.Lys163Glu)

SNV
Germline

Chr7:117531112

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368975228

rs_1798858347

1 SubmittersRCV001064386

NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter)

SNV
Germline

Chr7:117614649

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368993425

rs_1792456313

1 SubmittersRCV001058685

NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu)

SNV
Germline

Chr7:117642514

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA368974973

rs_1554395370

3 SubmittersRCV001042888 RCV004803397

NM_000492.4(CFTR):c.580-2A>G

SNV
Germline

Chr7:117535246

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA4450777

rs_193922730

6 SubmittersRCV001038806 RCV004570114

NM_000492.4(CFTR):c.3468+1G>T

SNV
Germline

Chr7:117614714

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368993769

rs_1554392798

1 SubmittersRCV001069654

NM_000492.4(CFTR):c.1602A>G (p.Ala534=)

SNV
Germline

Chr7:117587756

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA457227225

rs_1584810152

4 SubmittersRCV001163394 RCV001399216 RCV001593302

NM_000492.4(CFTR):c.1737T>C (p.Asp579=)

SNV
Germline

Chr7:117590410

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457227448

rs_1792008262

2 SubmittersRCV001163685 RCV004822316

NM_000492.4(CFTR):c.2937T>C (p.Asp979=)

SNV
Germline

Chr7:117606702

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457228810

rs_1792305947

3 SubmittersRCV001160122 RCV002070978

NM_000492.4(CFTR):c.3687C>T (p.Asn1229=)

SNV
Germline

Chr7:117627740

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457231472

rs_139322772

3 SubmittersRCV001163788 RCV003284008

NM_000492.4(CFTR):c.2490+12T>A

SNV
Germline

Chr7:117592669

Conflicting classifications of pathogenicity

CFTR-related disorder
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA577680740

rs_1185896776

2 SubmittersRCV001158763 RCV002070959

NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)

SNV
Germline

Chr7:117610664

Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368990854

rs_1584821736

3 SubmittersRCV001174678 RCV003473719

NM_000492.4(CFTR):c.870-4A>G

SNV
Germline

Chr7:117540096

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450856

rs_755173693

3 SubmittersRCV001175409 RCV001410315

NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr)

SNV
Germline

Chr7:117614651

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4451455

rs_755968404

5 SubmittersRCV001223100 RCV001828777 RCV004768935

NM_000492.4(CFTR):c.3859G>T (p.Gly1287Ter)

SNV
Germline

Chr7:117642579

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368975572

rs_1792936385

1 SubmittersRCV001213927

NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter)

SNV
Germline

Chr7:117559491

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368984352

rs_756206533

2 SubmittersRCV001236737 RCV001269768

NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)

SNV
Germline

Chr7:117642569

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA368975486

rs_1792935893

3 SubmittersRCV001247277 RCV001830007 RCV003331090

NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)

SNV
Germline

Chr7:117542049

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979977

rs_1799061745

1 SubmittersRCV001250526

NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)

SNV
Germline

Chr7:117548821

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368982594

rs_1799216615

1 SubmittersRCV001250572

NM_000492.4(CFTR):c.2490+1G>T

SNV
Germline

Chr7:117592658

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4451190

rs_141158996

5 SubmittersRCV001250517 RCV004538530 RCV004570640

NM_000492.4(CFTR):c.2988+2T>C

SNV
Germline

Chr7:117606755

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368989263

rs_1792307406

1 SubmittersRCV001250570

NM_000492.4(CFTR):c.3874-2A>C

SNV
Germline

Chr7:117652840

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977799

rs_1554396384

1 SubmittersRCV001260358

NM_000492.4(CFTR):c.2909-1G>C

SNV
Germline

Chr7:117606673

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368988855

rs_397508456

2 SubmittersRCV001261552

NM_000492.4(CFTR):c.269T>A (p.Leu90Ter)

SNV
Unknown

Chr7:117509138

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368972307

rs_397508421

1 SubmittersRCV001264350

NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter)

SNV
Unknown

Chr7:117535409

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977223

rs_1800082

1 SubmittersRCV001264351

NM_000492.4(CFTR):c.742A>T (p.Arg248Ter)

SNV
Unknown

Chr7:117535410

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977227

rs_1554380515

1 SubmittersRCV001264352

NM_000492.4(CFTR):c.751A>T (p.Arg251Ter)

SNV
Unknown

Chr7:117536555

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977332

rs_1798959540

1 SubmittersRCV001264353

NM_000492.4(CFTR):c.817A>T (p.Lys273Ter)

SNV
Unknown

Chr7:117536621

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977473

rs_1296578005

1 SubmittersRCV001264354

NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter)

SNV
Unknown

Chr7:117559518

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984445

rs_1799418948

1 SubmittersRCV001264355

NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter)

SNV
Unknown

Chr7:117559559

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA164967727

rs_200626971

1 SubmittersRCV001264356

NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)

SNV
Germline

Chr7:117559611

Pathogenic/Likely pathogenic

Cystic fibrosis
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368984808

rs_1799425190

4 SubmittersRCV001264357 RCV005040108

NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter)

SNV
Unknown

Chr7:117590404

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977234

rs_55928397

1 SubmittersRCV001263575

NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter)

SNV
Unknown

Chr7:117592028

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368978491

rs_1792033327

1 SubmittersRCV001263576

NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)

SNV
Unknown

Chr7:117592136

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368979052

rs_1792036190

2 SubmittersRCV001263577

NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter)

SNV
Unknown

Chr7:117592164

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979162

rs_1792036942

1 SubmittersRCV001263578

NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter)

SNV
Unknown

Chr7:117592577

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981172

rs_1792049376

1 SubmittersRCV001263579

NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter)

SNV
Unknown

Chr7:117592593

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981237

rs_1457971953

1 SubmittersRCV001263580

NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter)

SNV
Germline

Chr7:117595056

Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA368984098

rs_1792100143

2 SubmittersRCV001263581 RCV005606793

NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter)

SNV
Unknown

Chr7:117602852

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368986064

rs_1792246412

1 SubmittersRCV001263582

NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)

SNV
Germline

Chr7:117611708

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368992315

rs_150020260

2 SubmittersRCV001263867

NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter)

SNV
Unknown

Chr7:117627640

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368997066

rs_121908763

1 SubmittersRCV001263868

NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter)

SNV
Unknown

Chr7:117627735

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368997464

rs_759116351

1 SubmittersRCV001263869

NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter)

SNV
Unknown

Chr7:117642565

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368975455

rs_1792935619

1 SubmittersRCV001263870

NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter)

SNV
Unknown

Chr7:117652917

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368978635

rs_1793110279

1 SubmittersRCV001263871

NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)

SNV
Germline

Chr7:117664778

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4451616

rs_751098333

3 SubmittersRCV001263872

NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)

SNV
Germline

Chr7:117592622

Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA368981425

rs_1792051187

2 SubmittersRCV001269212 RCV001830072

NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser)

SNV
Germline

Chr7:117592160

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA368979156

rs_1177201180

5 SubmittersRCV001283850 RCV003481052 RCV004800960 RCV005040129

NM_000492.4(CFTR):c.869+9T>C

SNV
Germline

Chr7:117536682

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA1139660103

rs_1798964448

3 SubmittersRCV001284135 RCV001490010

NM_000492.4(CFTR):c.1392+12G>T

SNV
Germline

Chr7:117548835

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4450985

rs_2896226

3 SubmittersRCV001283964 RCV002393685

NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)

SNV
Germline

Chr7:117611661

Likely pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368992136

rs_1258481099

2 SubmittersRCV001284616 RCV004526104

NM_000492.4(CFTR):c.4188A>G (p.Thr1396=)

SNV
Germline

Chr7:117665510

Conflicting classifications of pathogenicity

CFTR-related disorder
Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457230829

rs_1322987429

3 SubmittersRCV001830090 RCV001813169 RCV002327619

NM_000492.4(CFTR):c.1585-2A>T

SNV
Germline

Chr7:117587737

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368975743

rs_397508233

6 SubmittersRCV001328347 RCV003473863 RCV001831037

NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile)

SNV
Germline

Chr7:117559573

Likely pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA368984637

rs_1799421850

2 SubmittersRCV001360246 RCV001831198

NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter)

SNV
Unknown

Chr7:117530952

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974384

rs_397508528

1 SubmittersRCV001376130

NM_000492.4(CFTR):c.489+1G>A

SNV
Germline

Chr7:117531115

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368975249

rs_78756941

1 SubmittersRCV001381418

NM_000492.4(CFTR):c.53+9G>T

SNV
Germline

Chr7:117480156

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA832113015

rs_745414764

2 SubmittersRCV001434935

NM_000492.4(CFTR):c.-234T>A

SNV
Germline

Chr7:117479861

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA164948632

rs_982968807

3 SubmittersRCV001466617 RCV004533806 RCV004587163

NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)

SNV
Germline

Chr7:117611700

Likely pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368992288

rs_771259493

2 SubmittersRCV001508222 RCV002284491

NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)

SNV
Germline

Chr7:117606722

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4451336

rs_565971160

4 SubmittersRCV001516708 RCV003145683 RCV001797843

NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)

SNV
Germline

Chr7:117542031

Pathogenic/Likely 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

Criteria Provided
Multiple Submitters
No Conflicts

CA368979866

rs_2115882158

4 SubmittersRCV001532983 RCV002254355 RCV005038252

NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter)

SNV
Germline

Chr7:117592502

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981002

rs_2116033063

1 SubmittersRCV001543674

NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe)

SNV
Germline

Chr7:117606682

Pathogenic

Obstructive azoospermia

Criteria Provided
Single Submitter

CA4451328

rs_747139295

1 SubmittersRCV001648515

NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)

SNV
Germline

Chr7:117535248

Pathogenic

Cystic fibrosis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA164945384

rs_376008630

7 SubmittersRCV001731141 RCV004536271 RCV003474017

NC_000007.14:g.117478787A>G

SNV
Germline

Chr7:117478787

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA832112134

rs_1195721615

2 SubmittersRCV001769401 RCV003507391

NM_000492.4(CFTR):c.1766+2T>G

SNV
Unknown

Chr7:117590441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA368977306

rs_1554389062

1 SubmittersRCV001801108

NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)

SNV
Germline

Chr7:117535248

Pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368976699

rs_376008630

4 SubmittersRCV001810764 RCV002359261

NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)

SNV
Germline

Chr7:117587809

Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368976115

rs_1791967656

3 SubmittersRCV001804239

NM_000492.4(CFTR):c.1652G>T (p.Gly551Val)

SNV
Germline

Chr7:117587806

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368976106

rs_75527207

1 SubmittersRCV001807991

NM_000492.4(CFTR):c.831G>A (p.Trp277Ter)

SNV
Germline

Chr7:117536635

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977504

rs_2116678722

1 SubmittersRCV001900464

NM_000492.4(CFTR):c.488A>T (p.Lys163Met)

SNV
Germline

Chr7:117531113

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368975237

rs_1562889435

2 SubmittersRCV001882085

NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)

SNV
Germline

Chr7:117530932

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368974303

rs_1584784895

2 SubmittersRCV001869888

NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter)

SNV
Germline

Chr7:117592179

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979220

rs_2116031354

1 SubmittersRCV001926736

NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter)

SNV
Germline

Chr7:117603746

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368987434

rs_2116062284

2 SubmittersRCV001911317

NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)

SNV
Germline

Chr7:117666992

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368984891

rs_1336644939

2 SubmittersRCV001941198

NM_000492.4(CFTR):c.503C>G (p.Ser168Ter)

SNV
Germline

Chr7:117534289

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368976359

rs_869249241

1 SubmittersRCV001915620

NM_000492.4(CFTR):c.931T>C (p.Phe311Leu)

SNV
Germline

Chr7:117540161

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368978315

rs_2116683801

1 SubmittersRCV002007760

NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)

SNV
Germline

Chr7:117531083

Conflicting classifications of pathogenicity

Cystic fibrosis
Spermatogenic failure, Y-linked, 2
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4450725

rs_149197463

7 SubmittersRCV002043439 RCV002287524 RCV002479801 RCV003481252 RCV004538742

NM_000492.4(CFTR):c.379T>C (p.Leu127=)

SNV
Germline

Chr7:117531004

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA457448654

rs_2116670348

3 SubmittersRCV002130732 RCV004531473

NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)

SNV
Germline

Chr7:117665465

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA457230782

rs_397508683

3 SubmittersRCV002107650 RCV002239430

NM_000492.4(CFTR):c.1585-7G>A

SNV
Germline

Chr7:117587732

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA577221922

rs_1367201083

2 SubmittersRCV002154610

NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)

SNV
Germline

Chr7:117559622

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984878

rs_2115938731

1 SubmittersRCV002222979

NM_000492.4(CFTR):c.2757C>A (p.Tyr919Ter)

SNV
Germline

Chr7:117603631

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA368986669

rs_1408746819

1 SubmittersRCV002224694

NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr)

SNV
Germline

Chr7:117652875

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA368978217

rs_121909042

1 SubmittersRCV002248991

NM_000492.4(CFTR):c.532G>C (p.Gly178Arg)

SNV
Germline

Chr7:117534318

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA368976470

rs_80282562

1 SubmittersRCV002249341

NM_000492.4(CFTR):c.1682C>T (p.Ala561Val)

SNV
Germline

Chr7:117590355

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA368977004

rs_121909047

2 SubmittersRCV002249346 RCV005406413

NM_000492.4(CFTR):c.2988+2T>G

SNV
Germline

Chr7:117606755

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA368989264

rs_1792307406

1 SubmittersRCV002249348

NM_000492.4(CFTR):c.1825C>T (p.His609Tyr)

SNV
Germline

Chr7:117591992

Conflicting classifications of pathogenicity

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified

Criteria Provided
Conflicting Classifications

CA368978208

rs_2116030305

2 SubmittersRCV002254396 RCV004587335

NM_000492.4(CFTR):c.433C>G (p.Leu145Val)

SNV
Germline

Chr7:117531058

Pathogenic

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Single Submitter

CA368974810

rs_749836021

1 SubmittersRCV002281603

NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)

SNV
Germline

Chr7:117530921

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA368974267

rs_397508467

2 SubmittersRCV002281604 RCV005419430

NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)

SNV
Germline

Chr7:117536573

Pathogenic

Cystic fibrosis
CFTR-related disorder
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368977371

rs_2485020199

5 SubmittersRCV002281605 RCV002400413 RCV003475323

NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)

SNV
Germline

Chr7:117536648

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977536

rs_1798962805

2 SubmittersRCV002282791

NM_000492.4(CFTR):c.870-12T>A

SNV
Germline

Chr7:117540088

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA2580076382

rs_2485026344

1 SubmittersRCV002284239

NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)

SNV
Unknown

Chr7:117559588

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984704

rs_397508224

1 SubmittersRCV002284519

NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)

SNV
Germline

Chr7:117587743

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA368975809

rs_1338239866

2 SubmittersRCV002284521 RCV003324014

NM_000492.4(CFTR):c.1735G>C (p.Asp579His)

SNV
Unknown

Chr7:117590408

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977242

rs_397508287

1 SubmittersRCV002284524

NM_000492.4(CFTR):c.1767-2A>G

SNV
Unknown

Chr7:117591932

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977702

rs_2485109059

1 SubmittersRCV002284525

NM_000492.4(CFTR):c.3140-16T>A

SNV
Germline

Chr7:117611565

Pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4451401

rs_767232138

3 SubmittersRCV002284531 RCV004572120

NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)

SNV
Unknown

Chr7:117611734

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368992413

rs_397508532

1 SubmittersRCV002284533

NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)

SNV
Unknown

Chr7:117509090

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368972210

rs_142540482

1 SubmittersRCV002284534

NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)

SNV
Germline

Chr7:117603613

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368986574

rs_149790377

2 SubmittersRCV002284537

NM_000492.4(CFTR):c.3469-1G>C

SNV
Unknown

Chr7:117627521

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368995887

rs_2485146025

1 SubmittersRCV002284544

NM_000492.4(CFTR):c.3469-2A>C

SNV
Unknown

Chr7:117627520

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368995878

rs_397508570

1 SubmittersRCV002284547

NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)

SNV
Unknown

Chr7:117642529

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368975100

rs_765549490

1 SubmittersRCV002284550

NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)

SNV
Unknown

Chr7:117504296

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368987092

rs_1798379068

1 SubmittersRCV002284553

NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)

SNV
Germline

Chr7:117542108

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980326

rs_397508177

2 SubmittersRCV002284570

NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)

SNV
Unknown

Chr7:117534321

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA4450753

rs_367850319

1 SubmittersRCV002284581

NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)

SNV
Unknown

Chr7:117642513

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974938

rs_2485159953

1 SubmittersRCV002284582

NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)

SNV
Unknown

Chr7:117504270

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368986891

rs_2484968079

1 SubmittersRCV002284583

NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)

SNV
Unknown

Chr7:117536552

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977325

rs_2485020029

1 SubmittersRCV002284584

NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)

SNV
Germline

Chr7:117559549

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368984544

rs_397508214

2 SubmittersRCV002284588

NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)

SNV
Germline

Chr7:117652898

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368978461

rs_2485171208

3 SubmittersRCV002284591 RCV005032221

NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)

SNV
Germline

Chr7:117590361

Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368977025

rs_2485107275

2 SubmittersRCV002284593

NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)

SNV
Unknown

Chr7:117590435

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977299

rs_755986694

1 SubmittersRCV002284594

NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)

SNV
Unknown

Chr7:117509075

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368972185

rs_2484975271

1 SubmittersRCV002284597

NM_000492.4(CFTR):c.1116+2T>A

SNV
Unknown

Chr7:117540348

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368979131

rs_775628795

1 SubmittersRCV002284599

NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)

SNV
Unknown

Chr7:117530945

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974373

rs_2485009015

1 SubmittersRCV002284604

NM_000492.4(CFTR):c.2619+2T>C

SNV
Unknown

Chr7:117595060

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984123

rs_397508407

1 SubmittersRCV002287799

NM_000492.4(CFTR):c.44T>A (p.Leu15His)

SNV
Germline

Chr7:117480138

Conflicting classifications of pathogenicity

Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA368981335

rs_1562876459

3 SubmittersRCV002290339 RCV003507405 RCV005608689

NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)

SNV
Unknown

Chr7:117664756

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368982380

rs_2485181747

1 SubmittersRCV002306461

NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)

SNV
Unknown

Chr7:117587827

Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368976197

rs_193922504

2 SubmittersRCV002310012 RCV004572231

NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)

SNV
Unknown

Chr7:117627600

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368996349

rs_2485146248

1 SubmittersRCV002308301

NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)

SNV
Unknown

Chr7:117614673

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368993561

rs_1235118844

1 SubmittersRCV002308314

NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)

SNV
Unknown

Chr7:117642513

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974961

rs_2485159953

1 SubmittersRCV002306846

NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)

SNV
Unknown

Chr7:117587817

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368976149

rs_397508255

1 SubmittersRCV002307177

NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)

SNV
Unknown

Chr7:117642556

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368975375

rs_1286786026

1 SubmittersRCV002310300

NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)

SNV
Unknown

Chr7:117530908

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974210

rs_2485008844

1 SubmittersRCV002310510

NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)

SNV
Unknown

Chr7:117535285

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368976836

rs_121908752

1 SubmittersRCV002310574

NM_000492.4(CFTR):c.3717+14A>G

SNV
Germline

Chr7:117627784

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA2580076360

rs_2485146738

2 SubmittersRCV002349047

NM_000492.4(CFTR):c.329A>T (p.Asp110Val)

SNV
Germline

Chr7:117530954

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA368974389

rs_2485009084

3 SubmittersRCV002326194 RCV004534050

NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)

SNV
Germline

Chr7:117667023

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4451699

rs_141554123

4 SubmittersRCV002332313 RCV004736156 RCV005232958

NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)

SNV
Germline

Chr7:117614679

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368993596

rs_1274368655

1 SubmittersRCV002457056

NM_000492.4(CFTR):c.3963+1G>T

SNV
Germline

Chr7:117652932

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368978723

rs_672601314

1 SubmittersRCV002357689

NM_000492.4(CFTR):c.490-1G>C

SNV
Germline

Chr7:117534275

Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA368976292

rs_397508734

2 SubmittersRCV002340655 RCV005032244

NM_000492.4(CFTR):c.53+2T>C

SNV
Germline

Chr7:117480149

Pathogenic/Likely pathogenic

Cystic fibrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368981441

rs_2484929014

4 SubmittersRCV002344592 RCV003138197

NM_000492.4(CFTR):c.579+8C>A

SNV
Germline

Chr7:117534373

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA2579000049

rs_2485014993

2 SubmittersRCV002359766

NM_000492.4(CFTR):c.128T>C (p.Val43Ala)

SNV
Germline

Chr7:117504327

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA4450644

rs_754657555

2 SubmittersRCV002383289 RCV003331359

NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)

SNV
Germline

Chr7:117590353

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368976988

rs_397508267

2 SubmittersRCV002414535

NM_000492.4(CFTR):c.2620-12G>T

SNV
Germline

Chr7:117602814

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA832112533

rs_760088331

2 SubmittersRCV002437233

NM_000492.4(CFTR):c.2026C>T (p.Pro676Ser)

SNV
Germline

Chr7:117592193

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4451130

rs_762888022

2 SubmittersRCV002419687 RCV003477001

NM_000492.4(CFTR):c.2689C>T (p.His897Tyr)

SNV
Germline

Chr7:117603563

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4451275

rs_567934887

2 SubmittersRCV002453173 RCV005232986

NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)

SNV
Germline

Chr7:117603759

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368987548

rs_2485122435

1 SubmittersRCV002437839

NM_000492.4(CFTR):c.668C>T (p.Ala223Val)

SNV
Germline

Chr7:117535336

Conflicting classifications of pathogenicity

not specified
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368977001

rs_2485017153

2 SubmittersRCV004700908 RCV003062134

NM_000492.4(CFTR):c.1689C>A (p.Tyr563Ter)

SNV
Germline

Chr7:117590362

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977029

rs_1554389015

1 SubmittersRCV003062136

NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)

SNV
Germline

Chr7:117642463

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368974511

rs_148122007

3 SubmittersRCV003062138 RCV003475487

NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)

SNV
Germline

Chr7:117559482

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA368984326

rs_1459732115

3 SubmittersRCV003071899

NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)

SNV
Germline

Chr7:117603616

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368986592

rs_769879940

1 SubmittersRCV002635335

NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)

SNV
Germline

Chr7:117592380

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980429

rs_2485110261

1 SubmittersRCV002823680

NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)

SNV
Germline

Chr7:117504353

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368987489

rs_2484968431

1 SubmittersRCV002815314

NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)

SNV
Germline

Chr7:117587776

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA368975969

rs_1791965061

2 SubmittersRCV002899565 RCV004700854

NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)

SNV
Germline

Chr7:117590406

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA164946422

rs_1030725225

1 SubmittersRCV003008465

NM_000492.4(CFTR):c.1452C>T (p.His484=)

SNV
Germline

Chr7:117559523

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA457228774

rs_2485065411

3 SubmittersRCV003049561 RCV004736248

NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)

SNV
Germline

Chr7:117665552

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368983788

rs_1165501753

1 SubmittersRCV003024642

NM_000492.4(CFTR):c.3718-1G>C

SNV
Germline

Chr7:117642437

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA368974395

rs_387906369

2 SubmittersRCV003150893 RCV003466022

NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)

SNV
Germline

Chr7:117559597

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368984747

rs_2485065803

1 SubmittersRCV003151967

NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)

SNV
Germline

Chr7:117534360

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368976604

rs_397508756

1 SubmittersRCV003151968

NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)

SNV
Germline

Chr7:117535387

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368977143

rs_2485017487

1 SubmittersRCV003151969

NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)

SNV
Germline

Chr7:117614679

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

CA368993597

rs_1274368655

1 SubmittersRCV003151972

NM_000492.4(CFTR):c.1117-1G>T

SNV
Germline

Chr7:117542015

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA368979764

rs_797045160

1 SubmittersRCV003159583

NM_000492.4(CFTR):c.3140-11A>G

SNV
Germline

Chr7:117611570

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA577680846

rs_1234696445

2 SubmittersRCV003230915

NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)

SNV
Germline

Chr7:117667073

Pathogenic/Likely pathogenic

Cystic fibrosis
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368985273

rs_2485185956

2 SubmittersRCV003230920 RCV005036705

NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)

SNV
Germline

Chr7:117509122

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA368972281

rs_1584776437

3 SubmittersRCV003283382 RCV003738426 RCV004538935

NM_000492.4(CFTR):c.2587C>T (p.Leu863=)

SNV
Germline

Chr7:117595026

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457227624

rs_1792099468

2 SubmittersRCV003283385

NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)

SNV
Germline

Chr7:117590382

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368977136

rs_2485107328

1 SubmittersRCV003317762

NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)

SNV
Germline

Chr7:117587829

Pathogenic/Likely pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368976213

rs_75549581

3 SubmittersRCV003481487 RCV003507500

NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)

SNV
Germline

Chr7:117610636

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368990795

rs_2485129118

1 SubmittersRCV003324374

NM_000492.4(CFTR):c.2909-2A>T

SNV
Unknown

Chr7:117606672

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368988835

rs_1215272332

1 SubmittersRCV003328546

NM_000492.4(CFTR):c.53+1005T>G

SNV
Unknown

Chr7:117481152

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA2580617916

rs_2484931786

1 SubmittersRCV003328547

NM_000492.4(CFTR):c.2925A>G (p.Arg975=)

SNV
Germline

Chr7:117606690

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA457228796

rs_1160986735

2 SubmittersRCV003328869 RCV003618070

NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)

SNV
Germline

Chr7:117666927

Conflicting classifications of pathogenicity

not specified
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Conflicting Classifications

CA368984454

rs_2116226142

3 SubmittersRCV003388562 RCV004572961 RCV004796801

NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)

SNV
Germline

Chr7:117542039

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368979907

rs_1236277028

3 SubmittersRCV003388688

NM_000492.4(CFTR):c.1941T>A (p.Cys647Ter)

SNV
Germline

Chr7:117592108

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA368978914

rs_2485109525

1 SubmittersRCV003423759

NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)

SNV
Germline

Chr7:117559650

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368985034

rs_397508228

1 SubmittersRCV003445298

NM_000492.4(CFTR):c.1209+2T>A

SNV
Germline

Chr7:117542110

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980330

rs_1584790302

1 SubmittersRCV003445365

NM_000492.4(CFTR):c.2490+1G>C

SNV
Unknown

Chr7:117592658

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

CA368981824

rs_141158996

1 SubmittersRCV003475679

NM_000492.4(CFTR):c.3469-1304C>G

SNV
Germline

Chr7:117626218

Pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1737398091

rs_1792647486

2 SubmittersRCV003475680 RCV005323449

NM_000492.4(CFTR):c.54-1G>A

SNV
Germline

Chr7:117504252

Pathogenic/Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368986778

rs_2484968022

2 SubmittersRCV003475689 RCV004701075

NM_000492.4(CFTR):c.1067G>A (p.Trp356Ter)

SNV
Unknown

Chr7:117540297

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

CA368978949

rs_573808767

1 SubmittersRCV003475693

NM_000492.4(CFTR):c.1210-3C>G

SNV
Germline

Chr7:117548638

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA1737369567

rs_1324592887

2 SubmittersRCV003475699 RCV005323450

NM_000492.4(CFTR):c.1351G>T (p.Gly451Ter)

SNV
Unknown

Chr7:117548782

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

CA368982268

rs_1359327577

1 SubmittersRCV003475668

NM_000492.4(CFTR):c.3904A>T (p.Lys1302Ter)

SNV
Unknown

Chr7:117652872

Pathogenic

Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Single Submitter

CA368978177

rs_2485171110

1 SubmittersRCV003475672

NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)

SNV
Germline

Chr7:117592653

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981698

rs_2485110958

1 SubmittersRCV003479849

NM_000492.4(CFTR):c.1155T>A (p.Tyr385Ter)

SNV
Germline

Chr7:117542054

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980026

rs_2485030309

1 SubmittersRCV003508002

NM_000492.4(CFTR):c.1116+2T>C

SNV
Germline

Chr7:117540348

Pathogenic/Likely pathogenic

Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4450891

rs_775628795

2 SubmittersRCV003508336 RCV004574071

NM_000492.4(CFTR):c.1679+17T>G

SNV
Germline

Chr7:117587850

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified

Criteria Provided
Conflicting Classifications

CA2579000000

rs_1791969383

2 SubmittersRCV003508599 RCV005240810

NM_000492.4(CFTR):c.1209+1G>C

SNV
Germline

Chr7:117542109

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368980328

rs_397508176

1 SubmittersRCV003508839

NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)

SNV
Germline

Chr7:117642459

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974488

rs_397508601

1 SubmittersRCV003508842

NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)

SNV
Germline

Chr7:117603730

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368987334

rs_151048781

1 SubmittersRCV003507873

NM_000492.4(CFTR):c.3367+1G>T

SNV
Germline

Chr7:117611809

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368992638

rs_1470125842

1 SubmittersRCV003618423

NM_000492.4(CFTR):c.54-1G>T

SNV
Germline

Chr7:117504252

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368986784

rs_2484968022

2 SubmittersRCV003618557

NM_000492.4(CFTR):c.273+2T>C

SNV
Germline

Chr7:117509144

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368972319

rs_2484975661

1 SubmittersRCV003618657

NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)

SNV
Germline

Chr7:117666980

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368984780

rs_2485185648

1 SubmittersRCV003617398

NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)

SNV
Germline

Chr7:117611722

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368992368

rs_2485130489

1 SubmittersRCV003617572

NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)

SNV
Germline

Chr7:117540163

Pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA368978326

rs_121909016

2 SubmittersRCV003617661

NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)

SNV
Germline

Chr7:117480108

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981180

rs_193922501

1 SubmittersRCV003617678

NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)

SNV
Germline

Chr7:117480107

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368981177

rs_2484928867

1 SubmittersRCV003619059

NM_000492.4(CFTR):c.2139T>A (p.Ile713=)

SNV
Germline

Chr7:117592306

Conflicting classifications of pathogenicity

Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA4451145

rs_763930691

2 SubmittersRCV003847833

NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)

SNV
Germline

Chr7:117530955

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368974391

rs_397508537

1 SubmittersRCV003871884

NM_000492.4(CFTR):c.1569A>G (p.Ala523=)

SNV
Germline

Chr7:117559640

Conflicting classifications of pathogenicity

CFTR-related disorder

No Assertion Criteria Provided

CA457228915

rs_2485065974

2 SubmittersRCV004545528

NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)

SNV
Germline

Chr7:117611734

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368992410

rs_397508532

1 SubmittersRCV003989043

NM_000492.4(CFTR):c.1769G>C (p.Cys590Ser)

SNV
Germline

Chr7:117591936

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA368977731

rs_1347776232

1 SubmittersRCV003993399

NM_000492.4(CFTR):c.3546C>A (p.Tyr1182Ter)

SNV
Germline

Chr7:117627599

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

CA368996342

rs_397508581

1 SubmittersRCV004018233

NM_000492.4(CFTR):c.53+1G>C

SNV
Germline

Chr7:117480148

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_397508746

2 SubmittersRCV004575631 RCV005038717

NM_000492.4(CFTR):c.3136G>T (p.Glu1046Ter)

SNV
Germline

Chr7:117610666

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

rs_2485129172

1 SubmittersRCV004587945

NM_000492.4(CFTR):c.1373G>A (p.Gly458Glu)

SNV
Germline

Chr7:117548804

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

rs_121909009

1 SubmittersRCV004586428

NM_000492.4(CFTR):c.273+1G>C

SNV
Germline

Chr7:117509143

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004690725

NM_000492.4(CFTR):c.3181G>A (p.Gly1061Arg)

SNV
Germline

Chr7:117611622

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004690742

NM_000492.4(CFTR):c.1210-1G>T

SNV
Germline

Chr7:117548640

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004690929

NM_000492.4(CFTR):c.1609G>A (p.Asp537Asn)

SNV
Germline

Chr7:117587763

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005038778 RCV004690954

NM_000492.4(CFTR):c.1534T>C (p.Tyr512His)

SNV
Germline

Chr7:117559605

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689577

NM_000492.4(CFTR):c.1398A>T (p.Ser466=)

SNV
Germline

Chr7:117559469

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689578

NM_000492.4(CFTR):c.1409T>G (p.Val470Gly)

SNV
Germline

Chr7:117559480

Conflicting classifications of pathogenicity

Cystic fibrosis
CFTR-related disorder

No Assertion Criteria Provided

2 SubmittersRCV004689579 RCV005610711

NM_000492.4(CFTR):c.1574A>C (p.Gln525Pro)

SNV
Germline

Chr7:117559645

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689580

NM_000492.4(CFTR):c.1447A>G (p.Lys483Glu)

SNV
Germline

Chr7:117559518

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689581

NM_000492.4(CFTR):c.1529T>G (p.Val510Gly)

SNV
Germline

Chr7:117559600

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689582

NM_000492.4(CFTR):c.1559T>C (p.Val520Ala)

SNV
Germline

Chr7:117559630

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689596

NM_000492.4(CFTR):c.1562T>C (p.Ile521Thr)

SNV
Germline

Chr7:117559633

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689597

NM_000492.4(CFTR):c.1428G>T (p.Glu476Asp)

SNV
Germline

Chr7:117559499

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689598

NM_000492.4(CFTR):c.1508A>G (p.Lys503Arg)

SNV
Germline

Chr7:117559579

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689599

NM_000492.4(CFTR):c.1490T>A (p.Ile497Asn)

SNV
Germline

Chr7:117559561

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689600

NM_000492.4(CFTR):c.1435G>C (p.Glu479Gln)

SNV
Germline

Chr7:117559506

Likely pathogenic

Cystic fibrosis

No Assertion Criteria Provided

1 SubmittersRCV004689601

NM_000492.4(CFTR):c.1114C>T (p.Gln372Ter)

SNV
Germline

Chr7:117540344

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004702847

NM_000492.4(CFTR):c.614C>T (p.Pro205Leu)

SNV
Germline

Chr7:117535282

Conflicting classifications of pathogenicity

not specified
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004699806 RCV005038787 RCV005059773

NM_000492.4(CFTR):c.3139+1G>C

SNV
Germline

Chr7:117610670

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004783504

NM_000492.4(CFTR):c.3218A>G (p.Tyr1073Cys)

SNV
Germline

Chr7:117611659

Likely pathogenic

Condition: not provided
Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004792184 RCV005433542

NM_000492.4(CFTR):c.3311A>T (p.Glu1104Val)

SNV
Germline

Chr7:117611752

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004792185

NM_000492.4(CFTR):c.1584+675A>G

SNV
Unknown

Chr7:117560330

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV004805151

NM_000492.4(CFTR):c.580-1G>C

SNV
Germline

Chr7:117535247

Pathogenic/Likely pathogenic

Cystic fibrosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004813426

NM_000492.4(CFTR):c.648G>A (p.Trp216Ter)

SNV
Germline

Chr7:117535316

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005033561

NM_000492.4(CFTR):c.2041G>T (p.Glu681Ter)

SNV
Germline

Chr7:117592208

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005033566

NM_000492.4(CFTR):c.2908+1G>T

SNV
Germline

Chr7:117603783

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005033569

NM_000492.4(CFTR):c.3223G>T (p.Glu1075Ter)

SNV
Germline

Chr7:117611664

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Single Submitter

1 SubmittersRCV005033571

NM_000492.4(CFTR):c.3373G>T (p.Gly1125Ter)

SNV
Germline

Chr7:117614618

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Single Submitter

1 SubmittersRCV005033573

NM_000492.4(CFTR):c.3940G>T (p.Glu1314Ter)

SNV
Germline

Chr7:117652908

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005072836

NM_000492.4(CFTR):c.743+2T>A

SNV
Germline

Chr7:117535413

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005089069

NM_000492.4(CFTR):c.1204G>T (p.Glu402Ter)

SNV
Germline

Chr7:117542103

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005088507

NM_000492.4(CFTR):c.2491-1G>T

SNV
Germline

Chr7:117594929

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005199752

NM_000492.4(CFTR):c.3190A>C (p.Thr1064Pro)

SNV
Unknown

Chr7:117611631

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005232598

NM_000492.4(CFTR):c.2491-1G>A

SNV
Germline

Chr7:117594929

Likely pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005238679

NM_000492.4(CFTR):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr7:117548776

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005241202

NM_000492.4(CFTR):c.458G>T (p.Arg153Ile)

SNV
Germline

Chr7:117531083

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005257564

NM_000492.4(CFTR):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr7:117592121

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005324051

NM_000492.4(CFTR):c.3873+1G>C

SNV
Germline

Chr7:117642594

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation

Criteria Provided
Single Submitter

1 SubmittersRCV005396439

NM_000492.4(CFTR):c.568A>T (p.Lys190Ter)

SNV
Germline

Chr7:117534354

Pathogenic

Cystic fibrosis

Criteria Provided
Single Submitter

1 SubmittersRCV005431235

NM_000492.4(CFTR):c.4137-2A>G

SNV
Germline

Chr7:117665457