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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_000492.4(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.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_007272.3(CTRC):c.760C>T (p.Arg254Trp)	SNV Germline	Chr1:15445717	Conflicting classifications of pathogenicity; association	Pancreatitis, chronic, susceptibility to Hereditary pancreatitis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA119351	rs_121909293	11 SubmittersRCV000008657 RCV000119045 RCV002247276 RCV003421912
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)	SNV Germline	Chr1:15440524	Pathogenic	Pancreatitis, chronic, susceptibility to Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA119352	rs_121909294	4 SubmittersRCV000008659 RCV000119047
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	SNV Germline	Chr7:142751938	Pathogenic	Hereditary pancreatitis Condition: not provided PRSS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341151	rs_111033565	23 SubmittersRCV000012651 RCV000487005 RCV003944816
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	SNV Germline	Chr7:142750600	Pathogenic	Hereditary pancreatitis Hereditary pancreatitis Trypsinogen deficiency Vitamin D-dependent rickets type II with alopecia Myoepithelial tumor Condition: not provided PRSS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341152	rs_111033566	18 SubmittersRCV000012652 RCV000763166 RCV001507089 RCV002463587 RCV003103713 RCV004754255
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg)	SNV Germline	Chr7:142750582	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA341153	rs_111033567	3 SubmittersRCV000012653
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)	SNV Germline	Chr7:142750675	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA256108	rs_144422014	6 SubmittersRCV000012656 RCV005437961
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)	SNV Germline	Chr7:142751937	Pathogenic	Hereditary pancreatitis Condition: not provided PRSS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341154	rs_111033568	11 SubmittersRCV000012658 RCV001530066 RCV004754256
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SNV Germline	Chr5:147828115	Conflicting classifications of pathogenicity; association; risk factor	Pancreatitis, chronic, susceptibility to Hereditary pancreatitis Condition: not provided Finnish congenital nephrotic syndrome Tropical pancreatitis Pancreatitis	Criteria Provided Conflicting Classifications	CA123440	rs_17107315	27 SubmittersRCV000014768 RCV000119030 RCV000656981 RCV001258230 RCV002283443 RCV002468556
NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr)	SNV Germline	Chr5:147831576	Pathogenic	Hereditary pancreatitis	No Assertion Criteria Provided	CA256959	rs_104893938	1 SubmittersRCV000014771
NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro)	SNV Germline	Chr5:147831537	Pathogenic	Hereditary pancreatitis	No Assertion Criteria Provided	CA256961	rs_104893939	1 SubmittersRCV000014774
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_002769.5(PRSS1):c.346C>T (p.Arg116Cys)	SNV Germline	Chr7:142751919	Pathogenic/Likely pathogenic	Hereditary pancreatitis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342722	rs_387906698	8 SubmittersRCV000022814 RCV004557257
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.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.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.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.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.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.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.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.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.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.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.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_002769.5(PRSS1):c.389C>T (p.Thr130Ile)	SNV Germline	Chr7:142751962	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA260517	rs_193922655	3 SubmittersRCV000030383
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)	SNV Germline	Chr7:142751971	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA260519	rs_193922656	3 SubmittersRCV000030384
NM_002769.5(PRSS1):c.116T>C (p.Val39Ala)	SNV Germline	Chr7:142750630	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA342993	rs_397507439	1 SubmittersRCV001939531
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)	SNV Germline	Chr7:142751988	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA342995	rs_397507440	2 SubmittersRCV001328423
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	SNV Germline	Chr7:142750561	Pathogenic/Likely pathogenic	Hereditary pancreatitis Recurrent pancreatitis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342997	rs_202003805	13 SubmittersRCV000031920 RCV000626826 RCV002247406
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr)	SNV Germline	Chr7:142750600	Pathogenic	Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA343001	rs_111033566	2 SubmittersRCV000031923
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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+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.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.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.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.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+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.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.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.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.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.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.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.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.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.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.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.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_001379610.1(SPINK1):c.194+2T>C	SNV Germline	Chr5:147828020	Pathogenic/Likely pathogenic	Hereditary pancreatitis Tropical pancreatitis Hereditary pancreatitis Chronic pancreatitis Diabetes mellitus SPINK1-related disorder Condition: not provided Tropical pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA345639	rs_148954387	17 SubmittersRCV000119031 RCV000763134 RCV000626838 RCV001249189 RCV003398721 RCV001529765 RCV005359120
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)	SNV Germline	Chr1:15440577	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA345647	rs_515726209	7 SubmittersRCV000119044
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)	SNV Germline	Chr5:147824701	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified Condition: not provided SPINK1-related disorder	Criteria Provided Conflicting Classifications	CA332013	rs_35523678	12 SubmittersRCV000119161 RCV000855656 RCV001508177 RCV003935132
NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro)	SNV Germline	Chr7:142751920	Likely pathogenic	Hereditary pancreatitis	No Assertion Criteria Provided	CA273019	rs_199769221	1 SubmittersRCV000149411
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.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.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.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_007272.3(CTRC):c.-59C>T	SNV Germline	Chr1:15438406	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided CTRC-related disorder	Criteria Provided Conflicting Classifications	CA10581725	rs_183658182	7 SubmittersRCV000230316 RCV004691115 RCV003982975
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)	SNV Germline	Chr1:15444645	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided CTRC-related disorder	Criteria Provided Conflicting Classifications	CA613375	rs_200678111	6 SubmittersRCV000234026 RCV000521019 RCV003417831
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)	SNV Germline	Chr1:15445631	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA613439	rs_201486613	6 SubmittersRCV001000068 RCV002277591
NM_001379610.1(SPINK1):c.-22C>T	SNV Germline	Chr5:147831599	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA3494841	rs_190219062	5 SubmittersRCV000233830 RCV001812642
NM_003122.5(SPINK1):c.-147A>G	SNV Germline	Chr5:147831724	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided Tropical pancreatitis Hereditary pancreatitis Tropical pancreatitis SPINK1-related disorder	Criteria Provided Conflicting Classifications	CA10582408	rs_779832256	9 SubmittersRCV000231104 RCV003114398 RCV002487067 RCV003463664 RCV003929959
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.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_002769.5(PRSS1):c.623G>C (p.Gly208Ala)	SNV Germline	Chr7:142752899	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4530125	rs_189270875	7 SubmittersRCV000244167 RCV000472464
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_007272.3(CTRC):c.615C>T (p.Gly205=)	SNV Germline	Chr1:15444727	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613395	rs_756236720	2 SubmittersRCV000348631
NM_007272.3(CTRC):c.736C>T (p.Arg246Cys)	SNV Germline	Chr1:15445693	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613456	rs_200412314	2 SubmittersRCV000396990
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly)	SNV Germline	Chr1:15440305	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613199	rs_765777463	3 SubmittersRCV000363743
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)	SNV Germline	Chr1:15440327	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613207	rs_533967597	3 SubmittersRCV000266799
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr)	SNV Germline	Chr1:15440341	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613211	rs_768414501	3 SubmittersRCV000305597
NM_007272.3(CTRC):c.703G>A (p.Val235Ile)	SNV Germline	Chr1:15445660	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613447	rs_140993290	5 SubmittersRCV000347906
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.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_002769.5(PRSS1):c.200+1G>A	SNV Germline	Chr7:142750715	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4529710	rs_143909348	6 SubmittersRCV000455871 RCV000463153
NM_007272.3(CTRC):c.27G>A (p.Ala9=)	SNV Germline	Chr1:15438491	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA613183	rs_374821228	4 SubmittersRCV001286407 RCV003237879
NM_007272.3(CTRC):c.494-6C>T	SNV Germline	Chr1:15444600	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613365	rs_111790169	3 SubmittersRCV000474592
NM_007272.3(CTRC):c.39T>C (p.Cys13=)	SNV Germline	Chr1:15438503	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613186	rs_747431847	2 SubmittersRCV000463215
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)	SNV Germline	Chr5:147829611	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA3494810	rs_35006579	7 SubmittersRCV000780759 RCV001087900 RCV001810967
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)	SNV Germline	Chr5:147824698	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3494753	rs_760077990	7 SubmittersRCV000461801 RCV001002652 RCV000588967
NM_003122.5(SPINK1):c.-191-24G>A	SNV Germline	Chr5:147831792	Conflicting classifications of pathogenicity	Hereditary pancreatitis SPINK1-related disorder Condition: not provided Tropical pancreatitis Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA16612023	rs_191068215	5 SubmittersRCV000014772 RCV003398510 RCV005229791 RCV004795410
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.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_002769.5(PRSS1):c.453C>T (p.Gly151=)	SNV Germline	Chr7:142752026	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA4529975	rs_147765409	3 SubmittersRCV000468352 RCV000507889
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)	SNV Germline	Chr1:15445606	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA16616982	rs_202058123	4 SubmittersRCV000483666 RCV001856839
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	SNV Germline	Chr1:15445606	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613437	rs_202058123	6 SubmittersRCV000493312 RCV000801338
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_007272.3(CTRC):c.640-12G>A	SNV Germline	Chr1:15445585	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified CTRC-related disorder	Criteria Provided Conflicting Classifications	CA613432	rs_183053579	6 SubmittersRCV000507043 RCV002248742 RCV004730965
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile)	SNV Germline	Chr5:147824695	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA3494751	rs_576564400	4 SubmittersRCV000506639 RCV000660289
NM_001379610.1(SPINK1):c.87+26T>C	SNV Germline	Chr5:147829573	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA3494804	rs_200296519	3 SubmittersRCV001811008 RCV002255423
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)	SNV Germline	Chr5:147831545	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Condition: not provided SPINK1-related disorder	Criteria Provided Conflicting Classifications	CA3494828	rs_147454311	7 SubmittersRCV000506494 RCV000863511 RCV001811007 RCV003902812
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro)	SNV Germline	Chr7:142751884	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369608770	rs_1554499091	2 SubmittersRCV000507513 RCV004023438
NM_002769.5(PRSS1):c.561C>T (p.Gly187=)	SNV Germline	Chr7:142752537	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4530062	rs_1804561	3 SubmittersRCV000505862 RCV001405407
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)	SNV Germline	Chr7:130383404	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis CPA1-related disorder	Criteria Provided Conflicting Classifications	CA4484826	rs_144546424	5 SubmittersRCV000512869 RCV002256328 RCV003902818
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_002769.5(PRSS1):c.410C>T (p.Thr137Met)	SNV Germline	Chr7:142751983	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4529955	rs_117497341	6 SubmittersRCV000757693 RCV001755813
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.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_001379610.1(SPINK1):c.1A>T (p.Met1Leu)	SNV Germline	Chr5:147831577	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA361885591	rs_369163833	5 SubmittersRCV000590221 RCV000987609
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.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.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_002769.5(PRSS1):c.674A>G (p.Lys225Arg)	SNV Germline	Chr7:142752950	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA4530139	rs_541223359	7 SubmittersRCV000594431 RCV000814171 RCV001192439
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_002769.5(PRSS1):c.508A>G (p.Lys170Glu)	SNV Germline	Chr7:142752484	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4530041	rs_201550522	6 SubmittersRCV001174692 RCV000611439 RCV004722976
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)	SNV Germline	Chr16:89553871	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA8244506	rs_369503365	5 SubmittersRCV000640984 RCV004526729
NM_001379610.1(SPINK1):c.87+1G>A	SNV Germline	Chr5:147829598	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA361885405	rs_1554089895	1 SubmittersRCV000660288
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.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.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.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.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_007272.3(CTRC):c.493+3G>A	SNV Germline	Chr1:15443558	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613346	rs_772436044	3 SubmittersRCV000702315
NM_007272.3(CTRC):c.133-1G>T	SNV Germline	Chr1:15440492	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA338564876	rs_1557508272	1 SubmittersRCV000704581
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)	SNV Germline	Chr1:15440344	Pathogenic/Likely pathogenic	Hereditary pancreatitis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA613213	rs_747905422	4 SubmittersRCV000698829 RCV003489821
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)	SNV Germline	Chr1:15445703	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613459	rs_142560329	3 SubmittersRCV000685719
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr)	SNV Germline	Chr5:147824693	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA3494750	rs_373011963	3 SubmittersRCV000691476 RCV004526013
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)	SNV Germline	Chr5:147831540	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA3494827	rs_770387107	4 SubmittersRCV000691584 RCV000780757
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.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.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.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_007272.3(CTRC):c.550G>A (p.Ala184Thr)	SNV Germline	Chr1:15444662	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613382	rs_761546594	3 SubmittersRCV001217811
NM_007272.3(CTRC):c.606C>T (p.Cys202=)	SNV Germline	Chr1:15444718	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613393	rs_543348635	3 SubmittersRCV000756005 RCV002067187
NM_001379610.1(SPINK1):c.*27G>T	SNV Germline	Chr5:147824634	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA3494741	rs_368871387	2 SubmittersRCV001154660 RCV001811466
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_001379610.1(SPINK1):c.55+1G>T	SNV Germline	Chr5:147831522	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA361885479	rs_1561606446	1 SubmittersRCV000780760
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.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_007272.3(CTRC):c.154A>G (p.Asn52Asp)	SNV Germline	Chr1:15440514	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA338564986	rs_1199793577	2 SubmittersRCV000817908
NM_007272.3(CTRC):c.494-1G>C	SNV Germline	Chr1:15444605	Pathogenic/Likely pathogenic	Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA613366	rs_766917452	4 SubmittersRCV000821957
NM_007272.3(CTRC):c.369C>T (p.Ala123=)	SNV Germline	Chr1:15443431	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613333	rs_749606141	3 SubmittersRCV001098099
NM_007272.3(CTRC):c.549C>T (p.His183=)	SNV Germline	Chr1:15444661	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA613381	rs_554399153	3 SubmittersRCV000870123 RCV003238251
NM_007272.3(CTRC):c.174G>A (p.Thr58=)	SNV Germline	Chr1:15440534	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613249	rs_746721892	3 SubmittersRCV001096353
NM_007272.3(CTRC):c.231-2A>G	SNV Germline	Chr1:15442445	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA338565211	rs_1570783505	2 SubmittersRCV001002268
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.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_007272.3(CTRC):c.595A>T (p.Thr199Ser)	SNV Germline	Chr1:15444707	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613391	rs_751977111	3 SubmittersRCV001285209
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)	SNV Germline	Chr1:15445694	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA613458	rs_147925927	4 SubmittersRCV001222531 RCV001509022
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met)	SNV Germline	Chr5:147828090	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided Hereditary pancreatitis Tropical pancreatitis	Criteria Provided Conflicting Classifications	CA3494788	rs_370266754	4 SubmittersRCV001046403 RCV003480902 RCV005036281
NM_001868.4(CPA1):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:130380522	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA166884504	rs_142127319	2 SubmittersRCV002346217 RCV002549469
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg)	SNV Germline	Chr7:130381763	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484742	rs_41274176	3 SubmittersRCV001247645 RCV002255602
NM_001868.4(CPA1):c.506G>A (p.Arg169His)	SNV Germline	Chr7:130383413	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484827	rs_114365673	2 SubmittersRCV002067663 RCV002319395
NM_001868.4(CPA1):c.787T>C (p.Leu263=)	SNV Germline	Chr7:130384626	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484932	rs_782458397	2 SubmittersRCV001343037 RCV002434413
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser)	SNV Germline	Chr7:130385187	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis CPA1-related disorder	Criteria Provided Conflicting Classifications	CA4484972	rs_782790983	3 SubmittersRCV001229837 RCV002445197 RCV004758136
NM_007272.3(CTRC):c.41-5C>A	SNV Germline	Chr1:15440295	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA613197	rs_781284605	4 SubmittersRCV001066569 RCV003480904
NM_002769.5(PRSS1):c.203G>A (p.Arg68His)	SNV Germline	Chr7:142751776	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA4529878	rs_757111793	4 SubmittersRCV001037314 RCV005436962
NM_007272.3(CTRC):c.81C>T (p.Ser27=)	SNV Germline	Chr1:15440340	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613210	rs_749455108	3 SubmittersRCV001096352
NM_007272.3(CTRC):c.485G>A (p.Arg162His)	SNV Germline	Chr1:15443547	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA613344	rs_775404479	4 SubmittersRCV001098100 RCV004792719
NM_007272.3(CTRC):c.642G>A (p.Gly214=)	SNV Germline	Chr1:15445599	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA416207335	rs_1265655451	3 SubmittersRCV001099889
NM_007272.3(CTRC):c.759C>T (p.Thr253=)	SNV Germline	Chr1:15445716	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA416207425	rs_1325006359	2 SubmittersRCV001101882
NM_007272.3(CTRC):c.230+7G>A	SNV Germline	Chr1:15440597	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613263	rs_754126755	3 SubmittersRCV001098098
NM_007272.3(CTRC):c.792+12C>A	SNV Germline	Chr1:15445761	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA18253914	rs_371799801	2 SubmittersRCV001101883
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)	SNV Germline	Chr7:142749524	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4529593	rs_747228052	6 SubmittersRCV001209412 RCV004695176
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter)	SNV Germline	Chr7:142750680	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4529698	rs_147366981	3 SubmittersRCV001209513
NM_001868.4(CPA1):c.41T>C (p.Val14Ala)	SNV Germline	Chr7:130380561	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484653	rs_782301578	2 SubmittersRCV001242201 RCV002327585
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.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_007272.3(CTRC):c.640-14C>T	SNV Germline	Chr1:15445583	Conflicting classifications of pathogenicity	Hereditary pancreatitis CTRC-related disorder	Criteria Provided Conflicting Classifications	CA613429	rs_202049497	4 SubmittersRCV001287787 RCV003973185
NM_001868.4(CPA1):c.409G>A (p.Ala137Thr)	SNV Germline	Chr7:130382135	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369280851	rs_1418197645	2 SubmittersRCV001297279 RCV003166659
NM_001868.4(CPA1):c.635C>A (p.Thr212Asn)	SNV Germline	Chr7:130383733	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484882	rs_540251433	2 SubmittersRCV001304073 RCV002366145
NM_001868.4(CPA1):c.635C>G (p.Thr212Ser)	SNV Germline	Chr7:130383733	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484881	rs_540251433	2 SubmittersRCV001298380 RCV002366126
NM_001868.4(CPA1):c.686C>T (p.Thr229Met)	SNV Germline	Chr7:130383784	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484888	rs_781815975	3 SubmittersRCV001346861 RCV002368140
NM_001868.4(CPA1):c.1071T>A (p.Ile357=)	SNV Germline	Chr7:130385922	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4485041	rs_533389472	2 SubmittersRCV001343646 RCV003169654
NM_001868.4(CPA1):c.1157G>A (p.Arg386His)	SNV Germline	Chr7:130387908	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4485074	rs_782338563	2 SubmittersRCV001337182 RCV002357174
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys)	SNV Germline	Chr7:142749490	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4529580	rs_140591237	2 SubmittersRCV001343355
NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr)	SNV Germline	Chr7:142752476	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369609542	rs_1232891794	2 SubmittersRCV001369721
NM_001868.4(CPA1):c.201G>T (p.Val67=)	SNV Germline	Chr7:130381683	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484727	rs_559471767	2 SubmittersRCV001424927 RCV002420953
NM_002769.5(PRSS1):c.342C>T (p.Ser114=)	SNV Germline	Chr7:142751915	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4529927	rs_776924834	2 SubmittersRCV001460779
NM_001868.4(CPA1):c.65+3A>G	SNV Germline	Chr7:130380588	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484657	rs_577008275	2 SubmittersRCV001487203 RCV002368494
NM_001868.4(CPA1):c.148-4C>T	SNV Germline	Chr7:130381626	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484718	rs_532631461	2 SubmittersRCV001497827 RCV002388534
NM_002769.5(PRSS1):c.454+75A>G	SNV Germline	Chr7:142752102	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA834454352	rs_1376416883	2 SubmittersRCV001486580
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_007272.3(CTRC):c.181G>A (p.Gly61Arg)	SNV Germline	Chr1:15440541	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613253	rs_769482036	3 SubmittersRCV001803476
NM_001868.4(CPA1):c.389A>C (p.Asp130Ala)	SNV Germline	Chr7:130382115	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA166885931	rs_782428216	2 SubmittersRCV001884406 RCV002359359
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn)	SNV Germline	Chr7:142752433	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4530017	rs_61735002	3 SubmittersRCV001907380
NM_001868.4(CPA1):c.307C>T (p.Gln103Ter)	SNV Germline	Chr7:130381789	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369280270	rs_997840503	2 SubmittersRCV002011220 RCV004612098
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met)	SNV Germline	Chr5:147828041	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA3494779	rs_781162491	2 SubmittersRCV001911190
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys)	SNV Germline	Chr7:142751775	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4529876	rs_145867820	3 SubmittersRCV001973444 RCV004793664
NM_007272.3(CTRC):c.494-2A>G	SNV Germline	Chr1:15444604	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA338566848	rs_1708187577	2 SubmittersRCV002028879
NM_001868.4(CPA1):c.787+1G>A	SNV Germline	Chr7:130384627	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484933	rs_782790782	2 SubmittersRCV001874904 RCV004040570
NM_001868.4(CPA1):c.40G>C (p.Val14Leu)	SNV Germline	Chr7:130380560	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369279025	rs_1378007993	2 SubmittersRCV001936456 RCV002324351
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)	SNV Germline	Chr1:15445745	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613474	rs_769975164	2 SubmittersRCV001949364
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp)	SNV Germline	Chr7:142752997	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4530148	rs_141554682	2 SubmittersRCV001966667
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_001868.4(CPA1):c.208C>T (p.Pro70Ser)	SNV Germline	Chr7:130381690	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369279788	rs_1796406634	2 SubmittersRCV001962832 RCV004042989
NM_001868.4(CPA1):c.66-11A>T	SNV Germline	Chr7:130381087	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484671	rs_782638392	2 SubmittersRCV002200197 RCV002256902
NM_001868.4(CPA1):c.788-5C>A	SNV Germline	Chr7:130385141	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4484960	rs_201705049	2 SubmittersRCV002407364 RCV002199914
NM_002769.5(PRSS1):c.454+19C>A	SNV Germline	Chr7:142752046	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA578433239	rs_1414385892	2 SubmittersRCV002105669
NM_002769.5(PRSS1):c.200+18G>A	SNV Germline	Chr7:142750732	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA4529719	rs_778658500	3 SubmittersRCV002169582 RCV003331280
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.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_001868.4(CPA1):c.307C>G (p.Gln103Glu)	SNV Germline	Chr7:130381789	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA166885456	rs_997840503	2 SubmittersRCV002319862 RCV003718477
NM_001868.4(CPA1):c.308A>G (p.Gln103Arg)	SNV Germline	Chr7:130381790	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA369280274	rs_1387498138	2 SubmittersRCV002325766 RCV005096143
NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)	SNV Germline	Chr1:15443438	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA338565945	rs_1168572368	1 SubmittersRCV002351066
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)	SNV Germline	Chr7:142752444	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA369609420	rs_146076691	3 SubmittersRCV002335239 RCV003388110
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_001868.4(CPA1):c.531C>T (p.Gly177=)	SNV Germline	Chr7:130383438	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA457649077	rs_1051725707	2 SubmittersRCV002344696 RCV003730098
NM_001868.4(CPA1):c.500G>A (p.Ser167Asn)	SNV Germline	Chr7:130383407	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA369282151	rs_1796431541	2 SubmittersRCV002343096 RCV003096563
NM_001379610.1(SPINK1):c.55+1G>A	SNV Germline	Chr5:147831522	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA361885478	rs_1561606446	1 SubmittersRCV002351667
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)	SNV Germline	Chr1:15445679	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613454	rs_777436696	2 SubmittersRCV002371002
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)	SNV Germline	Chr5:147829603	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA129690185	rs_1007831681	3 SubmittersRCV002434903 RCV005232970
NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)	SNV Germline	Chr7:130381162	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4484682	rs_782702163	2 SubmittersRCV002385410 RCV003718583
NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)	SNV Germline	Chr1:15440525	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA338565008	rs_2526290117	1 SubmittersRCV002395086
NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)	SNV Germline	Chr5:147828042	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA361885204	rs_35737774	1 SubmittersRCV002407500
NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)	SNV Germline	Chr5:147828113	Pathogenic	Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA361885357	rs_2480199266	2 SubmittersRCV002389697
NM_001868.4(CPA1):c.15G>A (p.Leu5=)	SNV Germline	Chr7:130380535	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4484647	rs_537519042	2 SubmittersRCV002398665 RCV005097626
NM_007272.3(CTRC):c.1A>G (p.Met1Val)	SNV Germline	Chr1:15438465	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA613175	rs_544668774	2 SubmittersRCV002417109
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)	SNV Germline	Chr1:15442493	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA18251714	rs_760649717	2 SubmittersRCV002439719
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:15438466	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA338563491	rs_1455019932	1 SubmittersRCV002435646
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)	SNV Germline	Chr7:142751871	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4529914	rs_199507985	2 SubmittersRCV002442314
NM_001868.4(CPA1):c.196C>T (p.Arg66Ter)	SNV Germline	Chr7:130381678	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA166885329	rs_371401173	2 SubmittersRCV004614357 RCV003095541
NM_001868.4(CPA1):c.313T>C (p.Phe105Leu)	SNV Germline	Chr7:130381795	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4484751	rs_548306438	2 SubmittersRCV002606611 RCV005535552
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)	SNV Germline	Chr1:15443526	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA338566249	rs_2526297384	1 SubmittersRCV003120297
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_007272.3(CTRC):c.520C>T (p.Gln174Ter)	SNV Germline	Chr1:15444632	Pathogenic/Likely pathogenic	Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA338567004	rs_1290349619	2 SubmittersRCV003305778
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)	SNV Germline	Chr1:15440388	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA338564800	rs_2526289681	1 SubmittersRCV003382243
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)	SNV Germline	Chr1:15443542	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA338566283	rs_2526297442	2 SubmittersRCV003624082
NM_001868.4(CPA1):c.160C>T (p.Arg54Trp)	SNV Germline	Chr7:130381642	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA369279544	rs_782645631	2 SubmittersRCV003717234 RCV004823188
NM_007272.3(CTRC):c.132G>A (p.Gln44=)	SNV Germline	Chr1:15440391	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA18250429	rs_901779500	2 SubmittersRCV003625109
NM_007272.3(CTRC):c.494-1G>A	SNV Germline	Chr1:15444605	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA338566858	rs_766917452	2 SubmittersRCV003829570
NM_001868.4(CPA1):c.625A>G (p.Ile209Val)	SNV Germline	Chr7:130383723	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA4484878	rs_782417364	2 SubmittersRCV004511160 RCV005104855
NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)	SNV Germline	Chr1:15442462	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter	CA613291	rs_754640545	1 SubmittersRCV004517329
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_002769.5(PRSS1):c.5A>G (p.Asn2Ser)	SNV Germline	Chr7:142749489	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV004649013
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.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.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_001379610.1(SPINK1):c.220C>A (p.Gln74Lys)	SNV Germline	Chr5:147824681	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV005080921
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)	SNV Germline	Chr1:15445673	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV005197967
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_000492.4(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.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_007272.3(CTRC):c.760C>T (p.Arg254Trp)

SNV
Germline

Chr1:15445717

Conflicting classifications of pathogenicity; association

Pancreatitis, chronic, susceptibility to
Hereditary pancreatitis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA119351

rs_121909293

11 SubmittersRCV000008657 RCV000119045 RCV002247276 RCV003421912

NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)

SNV
Germline

Chr1:15440524

Pathogenic

Pancreatitis, chronic, susceptibility to
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA119352

rs_121909294

4 SubmittersRCV000008659 RCV000119047

NM_002769.5(PRSS1):c.365G>A (p.Arg122His)

SNV
Germline

Chr7:142751938

Pathogenic

Hereditary pancreatitis
Condition: not provided
PRSS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341151

rs_111033565

23 SubmittersRCV000012651 RCV000487005 RCV003944816

NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)

SNV
Germline

Chr7:142750600

Pathogenic

Hereditary pancreatitis
Hereditary pancreatitis
Trypsinogen deficiency
Vitamin D-dependent rickets type II with alopecia
Myoepithelial tumor
Condition: not provided
PRSS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341152

rs_111033566

18 SubmittersRCV000012652 RCV000763166 RCV001507089 RCV002463587 RCV003103713 RCV004754255

NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg)

SNV
Germline

Chr7:142750582

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA341153

rs_111033567

3 SubmittersRCV000012653

NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)

SNV
Germline

Chr7:142750675

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA256108

rs_144422014

6 SubmittersRCV000012656 RCV005437961

NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)

SNV
Germline

Chr7:142751937

Pathogenic

Hereditary pancreatitis
Condition: not provided
PRSS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341154

rs_111033568

11 SubmittersRCV000012658 RCV001530066 RCV004754256

NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)

SNV
Germline

Chr5:147828115

Conflicting classifications of pathogenicity; association; risk factor

Pancreatitis, chronic, susceptibility to
Hereditary pancreatitis
Condition: not provided
Finnish congenital nephrotic syndrome
Tropical pancreatitis
Pancreatitis

Criteria Provided
Conflicting Classifications

CA123440

rs_17107315

27 SubmittersRCV000014768 RCV000119030 RCV000656981 RCV001258230 RCV002283443 RCV002468556

NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr5:147831576

Pathogenic

Hereditary pancreatitis

No Assertion Criteria Provided

CA256959

rs_104893938

1 SubmittersRCV000014771

NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro)

SNV
Germline

Chr5:147831537

Pathogenic

Hereditary pancreatitis

No Assertion Criteria Provided

CA256961

rs_104893939

1 SubmittersRCV000014774

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_002769.5(PRSS1):c.346C>T (p.Arg116Cys)

SNV
Germline

Chr7:142751919

Pathogenic/Likely pathogenic

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342722

rs_387906698

8 SubmittersRCV000022814 RCV004557257

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.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.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.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.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.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.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.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.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.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.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.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_002769.5(PRSS1):c.389C>T (p.Thr130Ile)

SNV
Germline

Chr7:142751962

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA260517

rs_193922655

3 SubmittersRCV000030383

NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)

SNV
Germline

Chr7:142751971

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA260519

rs_193922656

3 SubmittersRCV000030384

NM_002769.5(PRSS1):c.116T>C (p.Val39Ala)

SNV
Germline

Chr7:142750630

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA342993

rs_397507439

1 SubmittersRCV001939531

NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)

SNV
Germline

Chr7:142751988

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA342995

rs_397507440

2 SubmittersRCV001328423

NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)

SNV
Germline

Chr7:142750561

Pathogenic/Likely pathogenic

Hereditary pancreatitis
Recurrent pancreatitis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342997

rs_202003805

13 SubmittersRCV000031920 RCV000626826 RCV002247406

NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr)

SNV
Germline

Chr7:142750600

Pathogenic

Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA343001

rs_111033566

2 SubmittersRCV000031923

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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+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.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.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.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.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+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.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.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.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.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.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.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.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.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.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.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.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_001379610.1(SPINK1):c.194+2T>C

SNV
Germline

Chr5:147828020

Pathogenic/Likely pathogenic

Hereditary pancreatitis
Tropical pancreatitis
Hereditary pancreatitis
Chronic pancreatitis
Diabetes mellitus
SPINK1-related disorder
Condition: not provided
Tropical pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA345639

rs_148954387

17 SubmittersRCV000119031 RCV000763134 RCV000626838 RCV001249189 RCV003398721 RCV001529765 RCV005359120

NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)

SNV
Germline

Chr1:15440577

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA345647

rs_515726209

7 SubmittersRCV000119044

NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)

SNV
Germline

Chr5:147824701

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified
Condition: not provided
SPINK1-related disorder

Criteria Provided
Conflicting Classifications

CA332013

rs_35523678

12 SubmittersRCV000119161 RCV000855656 RCV001508177 RCV003935132

NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro)

SNV
Germline

Chr7:142751920

Likely pathogenic

Hereditary pancreatitis

No Assertion Criteria Provided

CA273019

rs_199769221

1 SubmittersRCV000149411

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.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.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.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_007272.3(CTRC):c.-59C>T

SNV
Germline

Chr1:15438406

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided
CTRC-related disorder

Criteria Provided
Conflicting Classifications

CA10581725

rs_183658182

7 SubmittersRCV000230316 RCV004691115 RCV003982975

NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)

SNV
Germline

Chr1:15444645

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided
CTRC-related disorder

Criteria Provided
Conflicting Classifications

CA613375

rs_200678111

6 SubmittersRCV000234026 RCV000521019 RCV003417831

NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)

SNV
Germline

Chr1:15445631

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA613439

rs_201486613

6 SubmittersRCV001000068 RCV002277591

NM_001379610.1(SPINK1):c.-22C>T

SNV
Germline

Chr5:147831599

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3494841

rs_190219062

5 SubmittersRCV000233830 RCV001812642

NM_003122.5(SPINK1):c.-147A>G

SNV
Germline

Chr5:147831724

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided
Tropical pancreatitis
Hereditary pancreatitis
Tropical pancreatitis
SPINK1-related disorder

Criteria Provided
Conflicting Classifications

CA10582408

rs_779832256

9 SubmittersRCV000231104 RCV003114398 RCV002487067 RCV003463664 RCV003929959

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.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_002769.5(PRSS1):c.623G>C (p.Gly208Ala)

SNV
Germline

Chr7:142752899

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4530125

rs_189270875

7 SubmittersRCV000244167 RCV000472464

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_007272.3(CTRC):c.615C>T (p.Gly205=)

SNV
Germline

Chr1:15444727

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613395

rs_756236720

2 SubmittersRCV000348631

NM_007272.3(CTRC):c.736C>T (p.Arg246Cys)

SNV
Germline

Chr1:15445693

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613456

rs_200412314

2 SubmittersRCV000396990

NM_007272.3(CTRC):c.46A>G (p.Ser16Gly)

SNV
Germline

Chr1:15440305

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613199

rs_765777463

3 SubmittersRCV000363743

NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)

SNV
Germline

Chr1:15440327

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613207

rs_533967597

3 SubmittersRCV000266799

NM_007272.3(CTRC):c.82G>A (p.Ala28Thr)

SNV
Germline

Chr1:15440341

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613211

rs_768414501

3 SubmittersRCV000305597

NM_007272.3(CTRC):c.703G>A (p.Val235Ile)

SNV
Germline

Chr1:15445660

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613447

rs_140993290

5 SubmittersRCV000347906

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.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_002769.5(PRSS1):c.200+1G>A

SNV
Germline

Chr7:142750715

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4529710

rs_143909348

6 SubmittersRCV000455871 RCV000463153

NM_007272.3(CTRC):c.27G>A (p.Ala9=)

SNV
Germline

Chr1:15438491

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA613183

rs_374821228

4 SubmittersRCV001286407 RCV003237879

NM_007272.3(CTRC):c.494-6C>T

SNV
Germline

Chr1:15444600

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613365

rs_111790169

3 SubmittersRCV000474592

NM_007272.3(CTRC):c.39T>C (p.Cys13=)

SNV
Germline

Chr1:15438503

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613186

rs_747431847

2 SubmittersRCV000463215

NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)

SNV
Germline

Chr5:147829611

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3494810

rs_35006579

7 SubmittersRCV000780759 RCV001087900 RCV001810967

NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)

SNV
Germline

Chr5:147824698

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3494753

rs_760077990

7 SubmittersRCV000461801 RCV001002652 RCV000588967

NM_003122.5(SPINK1):c.-191-24G>A

SNV
Germline

Chr5:147831792

Conflicting classifications of pathogenicity

Hereditary pancreatitis
SPINK1-related disorder
Condition: not provided
Tropical pancreatitis
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA16612023

rs_191068215

5 SubmittersRCV000014772 RCV003398510 RCV005229791 RCV004795410

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.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_002769.5(PRSS1):c.453C>T (p.Gly151=)

SNV
Germline

Chr7:142752026

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA4529975

rs_147765409

3 SubmittersRCV000468352 RCV000507889

NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)

SNV
Germline

Chr1:15445606

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA16616982

rs_202058123

4 SubmittersRCV000483666 RCV001856839

NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)

SNV
Germline

Chr1:15445606

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613437

rs_202058123

6 SubmittersRCV000493312 RCV000801338

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_007272.3(CTRC):c.640-12G>A

SNV
Germline

Chr1:15445585

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified
CTRC-related disorder

Criteria Provided
Conflicting Classifications

CA613432

rs_183053579

6 SubmittersRCV000507043 RCV002248742 RCV004730965

NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile)

SNV
Germline

Chr5:147824695

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA3494751

rs_576564400

4 SubmittersRCV000506639 RCV000660289

NM_001379610.1(SPINK1):c.87+26T>C

SNV
Germline

Chr5:147829573

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA3494804

rs_200296519

3 SubmittersRCV001811008 RCV002255423

NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)

SNV
Germline

Chr5:147831545

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Condition: not provided
SPINK1-related disorder

Criteria Provided
Conflicting Classifications

CA3494828

rs_147454311

7 SubmittersRCV000506494 RCV000863511 RCV001811007 RCV003902812

NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro)

SNV
Germline

Chr7:142751884

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369608770

rs_1554499091

2 SubmittersRCV000507513 RCV004023438

NM_002769.5(PRSS1):c.561C>T (p.Gly187=)

SNV
Germline

Chr7:142752537

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4530062

rs_1804561

3 SubmittersRCV000505862 RCV001405407

NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)

SNV
Germline

Chr7:130383404

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis
CPA1-related disorder

Criteria Provided
Conflicting Classifications

CA4484826

rs_144546424

5 SubmittersRCV000512869 RCV002256328 RCV003902818

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_002769.5(PRSS1):c.410C>T (p.Thr137Met)

SNV
Germline

Chr7:142751983

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4529955

rs_117497341

6 SubmittersRCV000757693 RCV001755813

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.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_001379610.1(SPINK1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr5:147831577

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA361885591

rs_369163833

5 SubmittersRCV000590221 RCV000987609

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.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.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_002769.5(PRSS1):c.674A>G (p.Lys225Arg)

SNV
Germline

Chr7:142752950

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA4530139

rs_541223359

7 SubmittersRCV000594431 RCV000814171 RCV001192439

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_002769.5(PRSS1):c.508A>G (p.Lys170Glu)

SNV
Germline

Chr7:142752484

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4530041

rs_201550522

6 SubmittersRCV001174692 RCV000611439 RCV004722976

NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)

SNV
Germline

Chr16:89553871

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA8244506

rs_369503365

5 SubmittersRCV000640984 RCV004526729

NM_001379610.1(SPINK1):c.87+1G>A

SNV
Germline

Chr5:147829598

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA361885405

rs_1554089895

1 SubmittersRCV000660288

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.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.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.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.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_007272.3(CTRC):c.493+3G>A

SNV
Germline

Chr1:15443558

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613346

rs_772436044

3 SubmittersRCV000702315

NM_007272.3(CTRC):c.133-1G>T

SNV
Germline

Chr1:15440492

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA338564876

rs_1557508272

1 SubmittersRCV000704581

NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr1:15440344

Pathogenic/Likely pathogenic

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA613213

rs_747905422

4 SubmittersRCV000698829 RCV003489821

NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)

SNV
Germline

Chr1:15445703

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613459

rs_142560329

3 SubmittersRCV000685719

NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr)

SNV
Germline

Chr5:147824693

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA3494750

rs_373011963

3 SubmittersRCV000691476 RCV004526013

NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)

SNV
Germline

Chr5:147831540

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA3494827

rs_770387107

4 SubmittersRCV000691584 RCV000780757

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.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.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.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_007272.3(CTRC):c.550G>A (p.Ala184Thr)

SNV
Germline

Chr1:15444662

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613382

rs_761546594

3 SubmittersRCV001217811

NM_007272.3(CTRC):c.606C>T (p.Cys202=)

SNV
Germline

Chr1:15444718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613393

rs_543348635

3 SubmittersRCV000756005 RCV002067187

NM_001379610.1(SPINK1):c.*27G>T

SNV
Germline

Chr5:147824634

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3494741

rs_368871387

2 SubmittersRCV001154660 RCV001811466

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_001379610.1(SPINK1):c.55+1G>T

SNV
Germline

Chr5:147831522

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA361885479

rs_1561606446

1 SubmittersRCV000780760

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.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_007272.3(CTRC):c.154A>G (p.Asn52Asp)

SNV
Germline

Chr1:15440514

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA338564986

rs_1199793577

2 SubmittersRCV000817908

NM_007272.3(CTRC):c.494-1G>C

SNV
Germline

Chr1:15444605

Pathogenic/Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA613366

rs_766917452

4 SubmittersRCV000821957

NM_007272.3(CTRC):c.369C>T (p.Ala123=)

SNV
Germline

Chr1:15443431

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613333

rs_749606141

3 SubmittersRCV001098099

NM_007272.3(CTRC):c.549C>T (p.His183=)

SNV
Germline

Chr1:15444661

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA613381

rs_554399153

3 SubmittersRCV000870123 RCV003238251

NM_007272.3(CTRC):c.174G>A (p.Thr58=)

SNV
Germline

Chr1:15440534

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613249

rs_746721892

3 SubmittersRCV001096353

NM_007272.3(CTRC):c.231-2A>G

SNV
Germline

Chr1:15442445

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA338565211

rs_1570783505

2 SubmittersRCV001002268

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.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_007272.3(CTRC):c.595A>T (p.Thr199Ser)

SNV
Germline

Chr1:15444707

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613391

rs_751977111

3 SubmittersRCV001285209

NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)

SNV
Germline

Chr1:15445694

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA613458

rs_147925927

4 SubmittersRCV001222531 RCV001509022

NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met)

SNV
Germline

Chr5:147828090

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided
Hereditary pancreatitis
Tropical pancreatitis

Criteria Provided
Conflicting Classifications

CA3494788

rs_370266754

4 SubmittersRCV001046403 RCV003480902 RCV005036281

NM_001868.4(CPA1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:130380522

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA166884504

rs_142127319

2 SubmittersRCV002346217 RCV002549469

NM_001868.4(CPA1):c.281A>G (p.Gln94Arg)

SNV
Germline

Chr7:130381763

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484742

rs_41274176

3 SubmittersRCV001247645 RCV002255602

NM_001868.4(CPA1):c.506G>A (p.Arg169His)

SNV
Germline

Chr7:130383413

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484827

rs_114365673

2 SubmittersRCV002067663 RCV002319395

NM_001868.4(CPA1):c.787T>C (p.Leu263=)

SNV
Germline

Chr7:130384626

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484932

rs_782458397

2 SubmittersRCV001343037 RCV002434413

NM_001868.4(CPA1):c.829G>A (p.Gly277Ser)

SNV
Germline

Chr7:130385187

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis
CPA1-related disorder

Criteria Provided
Conflicting Classifications

CA4484972

rs_782790983

3 SubmittersRCV001229837 RCV002445197 RCV004758136

NM_007272.3(CTRC):c.41-5C>A

SNV
Germline

Chr1:15440295

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA613197

rs_781284605

4 SubmittersRCV001066569 RCV003480904

NM_002769.5(PRSS1):c.203G>A (p.Arg68His)

SNV
Germline

Chr7:142751776

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA4529878

rs_757111793

4 SubmittersRCV001037314 RCV005436962

NM_007272.3(CTRC):c.81C>T (p.Ser27=)

SNV
Germline

Chr1:15440340

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613210

rs_749455108

3 SubmittersRCV001096352

NM_007272.3(CTRC):c.485G>A (p.Arg162His)

SNV
Germline

Chr1:15443547

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA613344

rs_775404479

4 SubmittersRCV001098100 RCV004792719

NM_007272.3(CTRC):c.642G>A (p.Gly214=)

SNV
Germline

Chr1:15445599

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA416207335

rs_1265655451

3 SubmittersRCV001099889

NM_007272.3(CTRC):c.759C>T (p.Thr253=)

SNV
Germline

Chr1:15445716

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA416207425

rs_1325006359

2 SubmittersRCV001101882

NM_007272.3(CTRC):c.230+7G>A

SNV
Germline

Chr1:15440597

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613263

rs_754126755

3 SubmittersRCV001098098

NM_007272.3(CTRC):c.792+12C>A

SNV
Germline

Chr1:15445761

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA18253914

rs_371799801

2 SubmittersRCV001101883

NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)

SNV
Germline

Chr7:142749524

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4529593

rs_747228052

6 SubmittersRCV001209412 RCV004695176

NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr7:142750680

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4529698

rs_147366981

3 SubmittersRCV001209513

NM_001868.4(CPA1):c.41T>C (p.Val14Ala)

SNV
Germline

Chr7:130380561

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484653

rs_782301578

2 SubmittersRCV001242201 RCV002327585

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.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_007272.3(CTRC):c.640-14C>T

SNV
Germline

Chr1:15445583

Conflicting classifications of pathogenicity

Hereditary pancreatitis
CTRC-related disorder

Criteria Provided
Conflicting Classifications

CA613429

rs_202049497

4 SubmittersRCV001287787 RCV003973185

NM_001868.4(CPA1):c.409G>A (p.Ala137Thr)

SNV
Germline

Chr7:130382135

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369280851

rs_1418197645

2 SubmittersRCV001297279 RCV003166659

NM_001868.4(CPA1):c.635C>A (p.Thr212Asn)

SNV
Germline

Chr7:130383733

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484882

rs_540251433

2 SubmittersRCV001304073 RCV002366145

NM_001868.4(CPA1):c.635C>G (p.Thr212Ser)

SNV
Germline

Chr7:130383733

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484881

rs_540251433

2 SubmittersRCV001298380 RCV002366126

NM_001868.4(CPA1):c.686C>T (p.Thr229Met)

SNV
Germline

Chr7:130383784

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484888

rs_781815975

3 SubmittersRCV001346861 RCV002368140

NM_001868.4(CPA1):c.1071T>A (p.Ile357=)

SNV
Germline

Chr7:130385922

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4485041

rs_533389472

2 SubmittersRCV001343646 RCV003169654

NM_001868.4(CPA1):c.1157G>A (p.Arg386His)

SNV
Germline

Chr7:130387908

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4485074

rs_782338563

2 SubmittersRCV001337182 RCV002357174

NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys)

SNV
Germline

Chr7:142749490

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4529580

rs_140591237

2 SubmittersRCV001343355

NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr)

SNV
Germline

Chr7:142752476

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369609542

rs_1232891794

2 SubmittersRCV001369721

NM_001868.4(CPA1):c.201G>T (p.Val67=)

SNV
Germline

Chr7:130381683

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484727

rs_559471767

2 SubmittersRCV001424927 RCV002420953

NM_002769.5(PRSS1):c.342C>T (p.Ser114=)

SNV
Germline

Chr7:142751915

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4529927

rs_776924834

2 SubmittersRCV001460779

NM_001868.4(CPA1):c.65+3A>G

SNV
Germline

Chr7:130380588

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484657

rs_577008275

2 SubmittersRCV001487203 RCV002368494

NM_001868.4(CPA1):c.148-4C>T

SNV
Germline

Chr7:130381626

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484718

rs_532631461

2 SubmittersRCV001497827 RCV002388534

NM_002769.5(PRSS1):c.454+75A>G

SNV
Germline

Chr7:142752102

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA834454352

rs_1376416883

2 SubmittersRCV001486580

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_007272.3(CTRC):c.181G>A (p.Gly61Arg)

SNV
Germline

Chr1:15440541

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613253

rs_769482036

3 SubmittersRCV001803476

NM_001868.4(CPA1):c.389A>C (p.Asp130Ala)

SNV
Germline

Chr7:130382115

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA166885931

rs_782428216

2 SubmittersRCV001884406 RCV002359359

NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn)

SNV
Germline

Chr7:142752433

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4530017

rs_61735002

3 SubmittersRCV001907380

NM_001868.4(CPA1):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr7:130381789

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369280270

rs_997840503

2 SubmittersRCV002011220 RCV004612098

NM_001379610.1(SPINK1):c.175G>A (p.Val59Met)

SNV
Germline

Chr5:147828041

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA3494779

rs_781162491

2 SubmittersRCV001911190

NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys)

SNV
Germline

Chr7:142751775

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4529876

rs_145867820

3 SubmittersRCV001973444 RCV004793664

NM_007272.3(CTRC):c.494-2A>G

SNV
Germline

Chr1:15444604

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA338566848

rs_1708187577

2 SubmittersRCV002028879

NM_001868.4(CPA1):c.787+1G>A

SNV
Germline

Chr7:130384627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484933

rs_782790782

2 SubmittersRCV001874904 RCV004040570

NM_001868.4(CPA1):c.40G>C (p.Val14Leu)

SNV
Germline

Chr7:130380560

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369279025

rs_1378007993

2 SubmittersRCV001936456 RCV002324351

NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)

SNV
Germline

Chr1:15445745

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613474

rs_769975164

2 SubmittersRCV001949364

NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp)

SNV
Germline

Chr7:142752997

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4530148

rs_141554682

2 SubmittersRCV001966667

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_001868.4(CPA1):c.208C>T (p.Pro70Ser)

SNV
Germline

Chr7:130381690

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369279788

rs_1796406634

2 SubmittersRCV001962832 RCV004042989

NM_001868.4(CPA1):c.66-11A>T

SNV
Germline

Chr7:130381087

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484671

rs_782638392

2 SubmittersRCV002200197 RCV002256902

NM_001868.4(CPA1):c.788-5C>A

SNV
Germline

Chr7:130385141

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4484960

rs_201705049

2 SubmittersRCV002407364 RCV002199914

NM_002769.5(PRSS1):c.454+19C>A

SNV
Germline

Chr7:142752046

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA578433239

rs_1414385892

2 SubmittersRCV002105669

NM_002769.5(PRSS1):c.200+18G>A

SNV
Germline

Chr7:142750732

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA4529719

rs_778658500

3 SubmittersRCV002169582 RCV003331280

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.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_001868.4(CPA1):c.307C>G (p.Gln103Glu)

SNV
Germline

Chr7:130381789

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA166885456

rs_997840503

2 SubmittersRCV002319862 RCV003718477

NM_001868.4(CPA1):c.308A>G (p.Gln103Arg)

SNV
Germline

Chr7:130381790

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA369280274

rs_1387498138

2 SubmittersRCV002325766 RCV005096143

NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)

SNV
Germline

Chr1:15443438

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA338565945

rs_1168572368

1 SubmittersRCV002351066

NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)

SNV
Germline

Chr7:142752444

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA369609420

rs_146076691

3 SubmittersRCV002335239 RCV003388110

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_001868.4(CPA1):c.531C>T (p.Gly177=)

SNV
Germline

Chr7:130383438

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA457649077

rs_1051725707

2 SubmittersRCV002344696 RCV003730098

NM_001868.4(CPA1):c.500G>A (p.Ser167Asn)

SNV
Germline

Chr7:130383407

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA369282151

rs_1796431541

2 SubmittersRCV002343096 RCV003096563

NM_001379610.1(SPINK1):c.55+1G>A

SNV
Germline

Chr5:147831522

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA361885478

rs_1561606446

1 SubmittersRCV002351667

NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)

SNV
Germline

Chr1:15445679

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613454

rs_777436696

2 SubmittersRCV002371002

NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)

SNV
Germline

Chr5:147829603

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA129690185

rs_1007831681

3 SubmittersRCV002434903 RCV005232970

NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)

SNV
Germline

Chr7:130381162

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4484682

rs_782702163

2 SubmittersRCV002385410 RCV003718583

NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)

SNV
Germline

Chr1:15440525

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA338565008

rs_2526290117

1 SubmittersRCV002395086

NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)

SNV
Germline

Chr5:147828042

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA361885204

rs_35737774

1 SubmittersRCV002407500

NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)

SNV
Germline

Chr5:147828113

Pathogenic

Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA361885357

rs_2480199266

2 SubmittersRCV002389697

NM_001868.4(CPA1):c.15G>A (p.Leu5=)

SNV
Germline

Chr7:130380535

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4484647

rs_537519042

2 SubmittersRCV002398665 RCV005097626

NM_007272.3(CTRC):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:15438465

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA613175

rs_544668774

2 SubmittersRCV002417109

NM_007272.3(CTRC):c.277G>C (p.Val93Leu)

SNV
Germline

Chr1:15442493

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA18251714

rs_760649717

2 SubmittersRCV002439719

NM_007272.3(CTRC):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:15438466

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA338563491

rs_1455019932

1 SubmittersRCV002435646

NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)

SNV
Germline

Chr7:142751871

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4529914

rs_199507985

2 SubmittersRCV002442314

NM_001868.4(CPA1):c.196C>T (p.Arg66Ter)

SNV
Germline

Chr7:130381678

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA166885329

rs_371401173

2 SubmittersRCV004614357 RCV003095541

NM_001868.4(CPA1):c.313T>C (p.Phe105Leu)

SNV
Germline

Chr7:130381795

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4484751

rs_548306438

2 SubmittersRCV002606611 RCV005535552

NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)

SNV
Germline

Chr1:15443526

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA338566249

rs_2526297384

1 SubmittersRCV003120297

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_007272.3(CTRC):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr1:15444632

Pathogenic/Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA338567004

rs_1290349619

2 SubmittersRCV003305778

NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)

SNV
Germline

Chr1:15440388

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA338564800

rs_2526289681

1 SubmittersRCV003382243

NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)

SNV
Germline

Chr1:15443542

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA338566283

rs_2526297442

2 SubmittersRCV003624082

NM_001868.4(CPA1):c.160C>T (p.Arg54Trp)

SNV
Germline

Chr7:130381642

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA369279544

rs_782645631

2 SubmittersRCV003717234 RCV004823188

NM_007272.3(CTRC):c.132G>A (p.Gln44=)

SNV
Germline

Chr1:15440391

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA18250429

rs_901779500

2 SubmittersRCV003625109

NM_007272.3(CTRC):c.494-1G>A

SNV
Germline

Chr1:15444605

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA338566858

rs_766917452

2 SubmittersRCV003829570

NM_001868.4(CPA1):c.625A>G (p.Ile209Val)

SNV
Germline

Chr7:130383723

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4484878

rs_782417364

2 SubmittersRCV004511160 RCV005104855

NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)

SNV
Germline

Chr1:15442462

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

CA613291

rs_754640545

1 SubmittersRCV004517329

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_002769.5(PRSS1):c.5A>G (p.Asn2Ser)

SNV
Germline

Chr7:142749489

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004649013

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.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.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_001379610.1(SPINK1):c.220C>A (p.Gln74Lys)

SNV
Germline

Chr5:147824681

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005080921

NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)

SNV
Germline

Chr1:15445673

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005197967

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