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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation 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	Reviewed By Expert Panel	CA325518	rs_77101217	18 SubmittersRCV000007526 RCV001004456 RCV000727628 RCV001835623 RCV002288473 RCV002496294 RCV003472999
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	SNV Germline	Chr7:117530953	Pathogenic; drug response	Cystic fibrosis Condition: not provided not specified ivacaftor response - Efficacy Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis CFTR-related disorder Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA284835	rs_113993958	16 SubmittersRCV000007527 RCV000058930 RCV000780153 RCV000660769 RCV001004427 RCV002247259 RCV001009392 RCV001835624 RCV003473000
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 CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 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	37 SubmittersRCV000007528 RCV000007529 RCV000078997 RCV000417156 RCV000826137 RCV001009478 RCV000763151 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 Condition: not provided 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	Practice Guideline	CA340630	rs_77932196	20 SubmittersRCV000007530 RCV001004251 RCV001530124 RCV001831520 RCV002504761 RCV003473002
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	SNV Germline	Chr7:117548795	Pathogenic	Cystic fibrosis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation ivacaftor response - Efficacy 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	Practice Guideline	CA340631	rs_74551128	21 SubmittersRCV000007531 RCV000763569 RCV000660853 RCV001004446 RCV001530091 RCV001826427 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 not specified 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	CA340633	rs_80055610	19 SubmittersRCV000007533 RCV000224789 RCV000780134 RCV001831521 RCV001004262 RCV002504762 RCV003473005
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	SNV Germline	Chr7:117587778	Pathogenic	Cystic fibrosis Condition: not provided Hereditary pancreatitis 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 Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder	Practice Guideline	CA284836	rs_113993959	34 SubmittersRCV000007535 RCV000058931 RCV000119041 RCV000763572 RCV001004463 RCV003473006 RCV001826428
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	SNV Germline	Chr7:117587800	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided CFTR-related disorder Hereditary pancreatitis 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	Reviewed By Expert Panel	CA325521	rs_121908755	23 SubmittersRCV000007536 RCV000211264 RCV001004465 RCV000727629 RCV001831522 RCV002247260 RCV002496296 RCV003473007
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	SNV Germline	Chr7:117587801	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy 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 CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA254107	rs_121909005	19 SubmittersRCV000056350 RCV000211129 RCV000508411 RCV001004466 RCV000763573 RCV001826538 RCV003473249
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	SNV Germline	Chr7:117590394	Pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis CFTR-related disorder 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 Condition: not provided	Reviewed By Expert Panel	CA325523	rs_121908758	11 SubmittersRCV000007539 RCV001009367 RCV001831523 RCV001004269 RCV002490333 RCV003473008 RCV002254259
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	SNV Germline	Chr7:117587806	Pathogenic	Cystic fibrosis Hereditary pancreatitis 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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis 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	27 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 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	Reviewed By Expert Panel	CA340637	rs_75549581	17 SubmittersRCV000007543 RCV000521321 RCV001004261 RCV001826429 RCV002476941 RCV003473010
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	Criteria Provided Conflicting Classifications	CA146695	rs_74571530	19 SubmittersRCV000007546 RCV000078978 RCV001009496 RCV001281707 RCV001327947 RCV001642200 RCV002255993
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	SNV Germline	Chr7:117642566	Pathogenic	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 not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340638	rs_77010898	32 SubmittersRCV000007549 RCV000271658 RCV000763161 RCV000780159 RCV001004509 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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Spermatogenic failure, Y-linked, 2	Practice Guideline	CA340641	rs_80034486	38 SubmittersRCV000007556 RCV000224445 RCV001004513 RCV001831530 RCV002255995 RCV003473015 RCV002287325
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	SNV Germline	Chr7:117627537	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	Practice Guideline	CA340642	rs_74767530	24 SubmittersRCV000007557 RCV000780138 RCV000508142 RCV001004500 RCV001831531 RCV003473016 RCV002504763
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	SNV Germline	Chr7:117540230	Pathogenic	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 not specified CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA340644	rs_121909011	28 SubmittersRCV000007559 RCV000224060 RCV000763567 RCV001000033 RCV001826431 RCV001004246 RCV003473017
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	SNV Germline	Chr7:117587805	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Condition: not provided CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325536	rs_121909013	13 SubmittersRCV000007562 RCV000211256 RCV000224595 RCV001831533 RCV002247261 RCV003473020
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	SNV Germline	Chr7:117509123	Pathogenic	Cystic fibrosis Condition: not provided 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	Practice Guideline	CA340647	rs_75961395	23 SubmittersRCV000007563 RCV000224170 RCV001004234 RCV001831534 RCV002490334 RCV003473021
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)	SNV Germline	Chr7:117627525	Pathogenic	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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325537	rs_79850223	18 SubmittersRCV000007564 RCV000579152 RCV000763158 RCV001004499 RCV001831535 RCV003473022
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	SNV Germline	Chr7:117559546	Pathogenic	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 Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325551	rs_121909017	12 SubmittersRCV000007575 RCV000763571 RCV001004455 RCV001810836 RCV003473027
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 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	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 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA325556	rs_143570767	10 SubmittersRCV000007580 RCV001004510 RCV001831540 RCV002496298 RCV003736536
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	SNV Germline	Chr7:117611637	Pathogenic	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis not specified 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	Reviewed By Expert Panel	CA325558	rs_78194216	23 SubmittersRCV000007582 RCV000723839 RCV001004298 RCV001001063 RCV001831541 RCV002496299 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	Criteria Provided Conflicting Classifications	CA254112	rs_11971167	18 SubmittersRCV000007584 RCV000046985 RCV000176372 RCV000480239 RCV000587433 RCV001158873
NM_000492.3(CFTR):c.3718-2477C>T	SNV Germline	Chr7:117639961	Pathogenic	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 not specified Cystic fibrosis CFTR-related disorder CFTR-related disorder Hereditary pancreatitis	Practice Guideline	CA249893	rs_75039782	27 SubmittersRCV000007586 RCV000727872 RCV000763159 RCV000507372 RCV001009390 RCV001826438 RCV002257359
NM_000492.4(CFTR):c.1766+1G>A	SNV Germline	Chr7:117590440	Pathogenic	Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder not specified 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	CA340648	rs_121908748	20 SubmittersRCV000007588 RCV000985681 RCV001004273 RCV001027908 RCV001002343 RCV002496300 RCV003473031
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)	SNV Germline	Chr7:117540305	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Cystic fibrosis	Criteria Provided Conflicting Classifications		rs_76879328	3 SubmittersRCV001293471 RCV002247262 RCV002415404
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.617T>G (p.Leu206Trp)	SNV Germline	Chr7:117535285	Pathogenic; drug response	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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis ivacaftor response - Efficacy Cystic fibrosis CFTR-related disorder CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA221035	rs_121908752	28 SubmittersRCV000007611 RCV000079011 RCV000763156 RCV001004443 RCV000660772 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.3266G>A (p.Trp1089Ter)	SNV Germline	Chr7:117611707	Pathogenic	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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA340653	rs_78802634	16 SubmittersRCV000007615 RCV000507617 RCV000763581 RCV001004304 RCV001027902 RCV003473039
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 Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Condition: not provided Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325583	rs_121908753	18 SubmittersRCV000007619 RCV000660773 RCV000763568 RCV000985669 RCV001004254 RCV001826444 RCV003473041
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	9 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	21 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	Criteria Provided Multiple Submitters No Conflicts	CA341152	rs_111033566	16 SubmittersRCV000012652 RCV000763166 RCV001507089 RCV002463587 RCV003103713
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.364C>T (p.Arg122Cys)	SNV Germline	Chr7:142751937	Pathogenic	Hereditary pancreatitis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341154	rs_111033568	9 SubmittersRCV000012658 RCV001530066
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_001379610.1(SPINK1):c.41T>G (p.Leu14Arg)	SNV Germline	Chr5:147831537	Pathogenic	Hereditary pancreatitis	No Assertion Criteria Provided	CA256962	rs_104893939	1 SubmittersRCV000014775
NM_000492.4(CFTR):c.2988+1G>A	SNV Germline	Chr7:117606754	Pathogenic	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 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 RCV000763580 RCV001027899 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	7 SubmittersRCV000022814 RCV004557257
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	SNV Germline	Chr7:117548798	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis not specified 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 Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA325689	rs_193922500	23 SubmittersRCV000029474 RCV000731635 RCV000763570 RCV001001125 RCV001004447 RCV001009542 RCV001331274 RCV003473123
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 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis 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.1558G>A (p.Val520Ile)	SNV Germline	Chr7:117559629	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA221008	rs_77646904	15 SubmittersRCV000046339 RCV000589201 RCV000855641 RCV001163392 RCV002247397
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	SNV Germline	Chr7:117590357	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided CFTR-related disorder not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA240027	rs_1800097	14 SubmittersRCV000029484 RCV000587283 RCV001163395 RCV001526855 RCV002256003
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 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA326704	rs_121908759	21 SubmittersRCV000046498 RCV000506455 RCV000763577 RCV001009381 RCV001004277 RCV001588828 RCV002228058 RCV002256004 RCV003473129
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	SNV Germline	Chr7:117592169	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Chronic sinusitis Lung disease, non-specific Condition: not provided CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA182840	rs_1800100	23 SubmittersRCV000029490 RCV000155473 RCV000515296 RCV000582625 RCV000583839 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	21 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 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA260217	rs_1800103	18 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.3140-26A>G	SNV Germline	Chr7:117611555	Pathogenic	Cystic fibrosis not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis CFTR-related disorder Condition: not provided 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	Reviewed By Expert Panel	CA342838	rs_76151804	23 SubmittersRCV000029519 RCV001000469 RCV001004294 RCV001009368 RCV000724157 RCV001831610 RCV002482911 RCV003473139
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	19 SubmittersRCV000029527 RCV000079000 RCV000755234 RCV001163789 RCV001642238 RCV001801912 RCV003333727
NM_000492.4(CFTR):c.3717+5G>A	SNV Germline	Chr7:117627775	Pathogenic	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 Cystic fibrosis	Reviewed By Expert Panel	CA260242	rs_193922520	7 SubmittersRCV000029530 RCV001004503 RCV002496446
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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 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.91C>T (p.Arg31Cys)	SNV Germline	Chr7:117504290	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis 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	18 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 Condition: not provided CFTR-related disorder not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA325718	rs_144476686	14 SubmittersRCV000029549 RCV000590210 RCV001165382 RCV001526859 RCV001588829 RCV001801915 RCV003473147
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		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 Cystic fibrosis Hereditary pancreatitis 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 Hereditary pancreatitis	Practice Guideline	CA344708	rs_78756941	26 SubmittersRCV000043565 RCV000657900 RCV000763152 RCV001004431 RCV001027898 RCV003473246 RCV002288527
NM_000492.4(CFTR):c.2657+5G>A	SNV Germline	Chr7:117602868	Pathogenic	Cystic fibrosis not specified 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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Hereditary pancreatitis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Practice Guideline	CA344707	rs_80224560	29 SubmittersRCV000043564 RCV000507493 RCV000487256 RCV000763579 RCV001004484 RCV001009372 RCV002257369 RCV001835639 RCV003473241
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	SNV Germline	Chr7:117611717	Pathogenic	Cystic fibrosis Condition: not provided Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA269813	rs_121908761	20 SubmittersRCV000056379 RCV000522700 RCV000763157 RCV000781257 RCV001004305 RCV001831621 RCV003473243
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	SNV Germline	Chr7:117509047	Pathogenic	Cystic fibrosis Cystic fibrosis Hereditary pancreatitis 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 Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328091	rs_77284892	16 SubmittersRCV000056355 RCV000763147 RCV001004229 RCV001826532 RCV001528716 RCV003473244
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	SNV Germline	Chr7:117587799	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy not specified Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Hereditary pancreatitis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA254108	rs_121908757	11 SubmittersRCV000043664 RCV000211346 RCV000781222 RCV001004464 RCV001826533 RCV002247407 RCV003476914 RCV003466883
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	SNV Germline	Chr7:117611743	Pathogenic	Cystic fibrosis Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related 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	Reviewed By Expert Panel	CA221025	rs_36210737	16 SubmittersRCV000032712 RCV000757078 RCV000781258 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	Criteria Provided Conflicting Classifications	CA132749	rs_1800095	21 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)	SNV Germline	Chr7:117627640	Pathogenic	Cystic fibrosis CFTR-related 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	Reviewed By Expert Panel	CA328116	rs_121908763	9 SubmittersRCV000056383 RCV001831711 RCV002490585 RCV003473291
NM_000492.4(CFTR):c.274-1G>A	SNV Germline	Chr7:117530898	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	CA345313	rs_121908792	11 SubmittersRCV000056370 RCV000224434 RCV001004422 RCV000763148 RCV001831712 RCV003473292
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	SNV Germline	Chr7:117530974	Pathogenic; drug response	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 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 ivacaftor response - Efficacy	Reviewed By Expert Panel	CA328115	rs_77834169	24 SubmittersRCV000056382 RCV000727627 RCV000763150 RCV001009394 RCV001004428 RCV001826603 RCV003473295 RCV003227627
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	SNV Germline	Chr7:117534318	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Reviewed By Expert Panel	CA328125	rs_80282562	14 SubmittersRCV000056394 RCV000211246 RCV000508034 RCV000763153 RCV001004435 RCV001831713 RCV003473296 RCV002247425
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	SNV Germline	Chr7:117540251	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 Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328077	rs_397508144	12 SubmittersRCV000056338 RCV000724655 RCV001004248 RCV002496707 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	7 SubmittersRCV000577686 RCV000729383 RCV000780155 RCV002247432
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	SNV Germline	Chr7:117540282	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Hereditary pancreatitis CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA326377	rs_1800086	14 SubmittersRCV000046212 RCV000588868 RCV001000006 RCV001158654 RCV002265581
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	Criteria Provided Conflicting Classifications	CA175540	rs_147422190	21 SubmittersRCV000046274 RCV000078976 RCV000150335 RCV001004444 RCV001009469 RCV002256030 RCV003473449
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)	SNV Germline	Chr7:117548823	Pathogenic/Likely pathogenic	Cystic fibrosis Hereditary pancreatitis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_397508198	5 SubmittersRCV001009443 RCV001197496 RCV001357911
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 Cystic fibrosis 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		rs_121908805	5 SubmittersRCV001192400 RCV002390195 RCV002496708 RCV003473453
NM_000492.4(CFTR):c.1680-886A>G	SNV Germline	Chr7:117589467	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 not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder	Reviewed By Expert Panel	CA326604	rs_397508266	16 SubmittersRCV000046417 RCV000724668 RCV000763576 RCV000781239 RCV001004263 RCV001027897
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 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	CA221010	rs_139468767	11 SubmittersRCV000046494 RCV000790746 RCV001004276 RCV002490611 RCV003473470
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	SNV Germline	Chr7:117509069	Pathogenic; drug response	Cystic fibrosis ivacaftor response - Efficacy 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 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 RCV000660821 RCV000724153 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 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	CA326730	rs_397508331	9 SubmittersRCV000046523 RCV001831743 RCV002483054 RCV003473473
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	Criteria Provided Conflicting Classifications	CA221011	rs_140455771	22 SubmittersRCV000078984 RCV000675059 RCV001009488 RCV001588874 RCV002256031 RCV003473479
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)	SNV Germline	Chr7:117592427	Conflicting classifications of pathogenicity	Cystic fibrosis not specified Condition: not provided CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326784	rs_150157202	17 SubmittersRCV000046566 RCV000242825 RCV000589543 RCV001163690 RCV002255272
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 Condition: not provided CFTR-related disorder 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	Reviewed By Expert Panel	CA328102	rs_397508378	7 SubmittersRCV000056365 RCV001004478 RCV001200188 RCV001831750 RCV002496712 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	Reviewed By Expert Panel	CA345311	rs_397508387	10 SubmittersRCV000056366 RCV001197557 RCV001826638 RCV003473487
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	SNV Germline	Chr7:117594945	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326836	rs_201386642	14 SubmittersRCV000046610 RCV000224075 RCV000825894 RCV002288550
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)	SNV Germline	Chr7:117603558	Conflicting classifications of pathogenicity	not specified Cystic fibrosis CFTR-related disorder Breast neoplasm Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA326888	rs_201864483	11 SubmittersRCV000508371 RCV000667642 RCV001158765 RCV001265632 RCV001284478 RCV002257389
NM_000492.4(CFTR):c.273+1G>A	SNV Germline	Chr7:117509143	Pathogenic	Cystic fibrosis Condition: not provided not specified CFTR-related disorder 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	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 Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder Hereditary pancreatitis	Reviewed By Expert Panel	CA326900	rs_121909034	9 SubmittersRCV000046665 RCV001009512 RCV003474549 RCV001826646 RCV002256032
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		rs_397508453	3 SubmittersRCV000673430 RCV002247434 RCV003476942
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 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 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Reviewed By Expert Panel	CA326985	rs_397508464	13 SubmittersRCV000505966 RCV000588283 RCV000763149 RCV001004424 RCV001831762 RCV003474560 RCV003476943
NM_000492.4(CFTR):c.2989-1G>A	SNV Germline	Chr7:117610518	Pathogenic	Cystic fibrosis not specified Condition: not provided CFTR-related disorder 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	Reviewed By Expert Panel	CA345319	rs_397508470	13 SubmittersRCV000056376 RCV000780171 RCV001781375 RCV001831764 RCV002490613 RCV003466906
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:117480096	Pathogenic/Likely pathogenic	Cystic fibrosis CFTR-related disorder Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA327005	rs_397508476	12 SubmittersRCV000046751 RCV001826652 RCV002262607 RCV002477157 RCV003476944
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 Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA327097	rs_200321110	16 SubmittersRCV000046823 RCV000506564 RCV001009473 RCV001375487 RCV002226453 RCV003474569
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	SNV Germline	Chr7:117530975	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided 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	CA327222	rs_78655421	10 SubmittersRCV000577295 RCV000985692 RCV003474583 RCV003483455
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	SNV Germline	Chr7:117642451	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 CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Reviewed By Expert Panel	CA328120	rs_267606723	12 SubmittersRCV000056386 RCV000211150 RCV000763160 RCV001004504 RCV001831779 RCV002247437 RCV003474587
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	11 SubmittersRCV000577447 RCV000585919 RCV001507714 RCV003448254 RCV004537230
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	SNV Germline	Chr7:117665547	Conflicting classifications of pathogenicity	Cystic fibrosis not specified 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	8 SubmittersRCV000576918 RCV000781273 RCV001811330 RCV002504943
NM_000492.4(CFTR):c.4242+1G>A	SNV Germline	Chr7:117665565	Pathogenic	Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	Reviewed By Expert Panel	CA327465	rs_372227120	9 SubmittersRCV000576317 RCV001826684 RCV002504944
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	4 SubmittersRCV000577497 RCV000781256 RCV002496714
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	SNV Germline	Chr7:117667091	Pathogenic/Likely pathogenic	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 Hereditary pancreatitis 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 RCV000388068 RCV000505964 RCV001004311 RCV001009479 RCV002247439 RCV002477161 RCV003466915
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)	SNV Germline	Chr7:117531070	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	CA327493	rs_397508718	3 SubmittersRCV000577096 RCV003883127
NM_000492.4(CFTR):c.489+3A>G	SNV Germline	Chr7:117531117	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA327529	rs_377729736	20 SubmittersRCV000047162 RCV000507054 RCV001001769 RCV001009491 RCV002255273 RCV003474605
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 Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Chronic pancreatitis	Criteria Provided Conflicting Classifications	CA275301	rs_1800079	23 SubmittersRCV000047174 RCV000178781 RCV000724146 RCV001009504 RCV001802207 RCV003322594 RCV003993779
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	SNV Germline	Chr7:117534363	Pathogenic	Cystic fibrosis Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder	Reviewed By Expert Panel	CA221033	rs_397508759	10 SubmittersRCV000047199 RCV000506873 RCV000763154 RCV001831795
NM_000492.4(CFTR):c.580-1G>T	SNV Germline	Chr7:117535247	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 Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation	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 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	Reviewed By Expert Panel	CA328129	rs_121908802	11 SubmittersRCV000056399 RCV000755925 RCV001004441 RCV000763155 RCV001831798
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	SNV Germline	Chr7:117535326	Pathogenic	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis 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 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 Condition: not provided not specified Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorder Cystic fibrosis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 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	CA327625	rs_397508783	17 SubmittersRCV000047235 RCV000732693 RCV000780160 RCV001004237 RCV001009386 RCV002228163 RCV002477162 RCV003474615
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 CFTR-related disorder Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications	CA146704	rs_1800135	19 SubmittersRCV000079006 RCV000203821 RCV001095182 RCV002255281 RCV001705727
NM_001379610.1(SPINK1):c.194+2T>C	SNV Germline	Chr5:147828020	Conflicting classifications of pathogenicity	Hereditary pancreatitis Chronic pancreatitis Tropical pancreatitis Hereditary pancreatitis Diabetes mellitus Condition: not provided SPINK1-related disorder	Criteria Provided Conflicting Classifications	CA345639	rs_148954387	16 SubmittersRCV000119031 RCV000626838 RCV000763134 RCV001249189 RCV001529765 RCV003398721
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	5 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_000492.3(CFTR):c.-461A>G	SNV Germline	Chr7:117479634	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided Hereditary pancreatitis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA274286	rs_185028612	8 SubmittersRCV000169416 RCV000593113 RCV002257473 RCV004535148
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)	SNV Germline	Chr7:117548743	Conflicting classifications of pathogenicity	CFTR-related disorder Condition: not provided Cystic fibrosis Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA239134	rs_201434579	6 SubmittersRCV000265349 RCV000436508 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 not specified CFTR-related disorder Infertility disorder Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA350158	rs_1800110	25 SubmittersRCV000206091 RCV000587447 RCV000664323 RCV001160121 RCV001327945 RCV001762431 RCV003468932
NM_007272.3(CTRC):c.-59C>T	SNV Germline	Chr1:15438406	Conflicting classifications of pathogenicity	Hereditary pancreatitis CTRC-related disorder	Criteria Provided Conflicting Classifications	CA10581725	rs_183658182	5 SubmittersRCV000230316 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	8 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 CFTR-related disorder Cystic fibrosis Obstructive azoospermia Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4451158	rs_151235408	16 SubmittersRCV000247513 RCV000586139 RCV001163688 RCV001085588 RCV001640481 RCV002255346
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	6 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 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	CA4451133	rs_201295415	8 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.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_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.198A>C (p.Lys66Asn)	SNV Germline	Chr5:147824703	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified Condition: not provided SPINK1-related disorder	Criteria Provided Conflicting Classifications	CA3494755	rs_143014431	5 SubmittersRCV000476237 RCV000780756 RCV001508178 RCV003431019
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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3494753	rs_760077990	7 SubmittersRCV000461801 RCV000588967 RCV001002652
NM_000492.4(CFTR):c.2908+1G>A	SNV Germline	Chr7:117603783	Pathogenic/Likely pathogenic	Cystic fibrosis Hereditary pancreatitis CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts	CA16612092	rs_1060503164	6 SubmittersRCV000465662 RCV003230503 RCV001828481 RCV003476096
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	SNV Germline	Chr7:117667022	Conflicting classifications of pathogenicity	Cystic fibrosis Condition: not provided not specified CFTR-related disorder Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4451697	rs_4148725	14 SubmittersRCV000456157 RCV000507912 RCV001002200 RCV001160218 RCV002255397
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 Hereditary pancreatitis CFTR-related disorder	Criteria Provided Conflicting Classifications	CA4451673	rs_138025486	9 SubmittersRCV000586481 RCV000664604 RCV001778983 RCV002255421 RCV004541576
NM_007272.3(CTRC):c.640-12G>A	SNV Germline	Chr1:15445585	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA613432	rs_183053579	5 SubmittersRCV000507043 RCV002248742
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.592-24C>T	SNV Germline	Chr7:142752844	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications	CA4530105	rs_192452846	3 SubmittersRCV000506466 RCV002056912
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_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	5 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_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.3274T>C (p.Tyr1092His)	SNV Germline	Chr7:117611715	Conflicting classifications of pathogenicity	Condition: not provided Cystic fibrosis not specified 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	CA4451415	rs_376968326	12 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 Cystic fibrosis Hereditary pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorder not specified	Criteria Provided Conflicting Classifications	CA4451489	rs_368393738	8 SubmittersRCV000594547 RCV001245034 RCV002491175 RCV001834866 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_002769.5(PRSS1):c.508A>G (p.Lys170Glu)	SNV Germline	Chr7:142752484	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications	CA4530041	rs_201550522	5 SubmittersRCV000611439 RCV001174692
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)	SNV Germline	Chr16:89553871	Pathogenic	Hereditary spastic paraplegia 7 Hereditary pancreatitis	Criteria Provided Multiple Submitters No Conflicts	CA8244506	rs_369503365	2 SubmittersRCV000640984 RCV004526729
NM_001379610.1(SPINK1):c.87+1G>A	SNV Germline	Chr5:147829598	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter		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		rs_948980243	3 SubmittersRCV000665651 RCV002257922
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 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Multiple Submitters No Conflicts		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		rs_772436044	3 SubmittersRCV000702315
NM_007272.3(CTRC):c.133-1G>T	SNV Germline	Chr1:15440492	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter		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		rs_747905422	4 SubmittersRCV000698829 RCV003489821
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)	SNV Germline	Chr1:15445703	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications		rs_142560329	3 SubmittersRCV000685719 RCV000757145
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		rs_770387107	4 SubmittersRCV000691584 RCV000780757
NM_000492.4(CFTR):c.489+87A>G	SNV Germline	Chr7:117531201	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis	Criteria Provided Conflicting Classifications		rs_969399514	3 SubmittersRCV000731922 RCV002485906 RCV002535244
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)	SNV Germline	Chr1:15444662	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		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		rs_368871387	2 SubmittersRCV001154660 RCV001811466
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	SNV Germline	Chr7:117531098	Conflicting classifications of pathogenicity	Cystic fibrosis not specified CFTR-related disorder Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_397508725	10 SubmittersRCV000757874 RCV000781275 RCV001835951 RCV003472278 RCV004576966
NM_001379610.1(SPINK1):c.55+1G>T	SNV Germline	Chr5:147831522	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter		rs_1561606446	1 SubmittersRCV000780760
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp)	SNV Germline	Chr1:15440514	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_1199793577	2 SubmittersRCV000817908
NM_007272.3(CTRC):c.494-1G>C	SNV Germline	Chr1:15444605	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_766917452	3 SubmittersRCV000821957
NM_007272.3(CTRC):c.369C>T (p.Ala123=)	SNV Germline	Chr1:15443431	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		rs_554399153	3 SubmittersRCV000870123 RCV003238251
NM_002769.5(PRSS1):c.200+10G>T	SNV Germline	Chr7:142750724	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications		rs_200217253	2 SubmittersRCV000866853 RCV001797802
NM_007272.3(CTRC):c.174G>A (p.Thr58=)	SNV Germline	Chr1:15440534	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		rs_1570783505	2 SubmittersRCV001002268
NM_002769.5(PRSS1):c.40+15C>T	SNV Germline	Chr7:142749539	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_760370254	3 SubmittersRCV001002209 RCV002068787
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)	SNV Germline	Chr1:15444707	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		rs_147925927	4 SubmittersRCV001222531 RCV001509022
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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_782790983	2 SubmittersRCV001229837 RCV002445197
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		rs_781284605	4 SubmittersRCV001066569 RCV003480904
NM_001868.4(CPA1):c.330G>T (p.Arg110=)	SNV Germline	Chr7:130381812	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_1260418233	2 SubmittersRCV001067977 RCV002320341
NM_007272.3(CTRC):c.81C>T (p.Ser27=)	SNV Germline	Chr1:15440340	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_749455108	3 SubmittersRCV001096352
NM_007272.3(CTRC):c.485G>A (p.Arg162His)	SNV Germline	Chr1:15443547	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_775404479	3 SubmittersRCV001098100
NM_007272.3(CTRC):c.642G>A (p.Gly214=)	SNV Germline	Chr1:15445599	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_1265655451	3 SubmittersRCV001099889
NM_007272.3(CTRC):c.230+7G>A	SNV Germline	Chr1:15440597	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		rs_371799801	2 SubmittersRCV001101883
NM_001379610.1(SPINK1):c.87+7A>T	SNV Germline	Chr5:147829592	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_1756473313	2 SubmittersRCV001199917 RCV001409047
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)	SNV Germline	Chr7:142749524	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_747228052	4 SubmittersRCV001209412
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter)	SNV Germline	Chr7:142750680	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_147366981	2 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		rs_782301578	2 SubmittersRCV001242201 RCV002327585
NM_002769.5(PRSS1):c.454+7G>A	SNV Germline	Chr7:142752034	Conflicting classifications of pathogenicity	Hereditary pancreatitis not specified	Criteria Provided Conflicting Classifications		rs_755175379	2 SubmittersRCV001237992 RCV002271634
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		rs_202049497	4 SubmittersRCV001287787 RCV003973185
NM_001868.4(CPA1):c.635C>A (p.Thr212Asn)	SNV Germline	Chr7:130383733	Conflicting classifications of pathogenicity	Hereditary pancreatitis Condition: not provided	Criteria Provided Conflicting Classifications		rs_540251433	2 SubmittersRCV002366145 RCV001304073
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		rs_540251433	2 SubmittersRCV001298380 RCV002366126
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp)	SNV Germline	Chr5:147828026	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_1261616345	2 SubmittersRCV001341846
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		rs_533389472	2 SubmittersRCV001343646 RCV003169654
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys)	SNV Germline	Chr7:142749490	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_140591237	2 SubmittersRCV001343355
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		rs_559471767	2 SubmittersRCV001424927 RCV002420953
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		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		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		rs_1376416883	2 SubmittersRCV001486580
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)	SNV Germline	Chr1:15440541	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_769482036	2 SubmittersRCV001803476
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn)	SNV Germline	Chr7:142752433	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_61735002	3 SubmittersRCV001907380
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys)	SNV Germline	Chr7:142751775	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_145867820	2 SubmittersRCV001973444
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		rs_782790782	2 SubmittersRCV001874904 RCV004040570
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)	SNV Germline	Chr1:15445745	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		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 Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Hereditary pancreatitis Condition: not provided CFTR-related disorder	Criteria Provided Conflicting Classifications		rs_149197463	7 SubmittersRCV002043439 RCV002287524 RCV002479801 RCV003481252 RCV004538742
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		rs_782638392	2 SubmittersRCV002200197 RCV002256902
NM_001868.4(CPA1):c.788-5C>A	SNV Germline	Chr7:130385141	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pancreatitis	Criteria Provided Conflicting Classifications		rs_201705049	2 SubmittersRCV002199914 RCV002407364
NM_002769.5(PRSS1):c.454+19C>A	SNV Germline	Chr7:142752046	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications		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		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		rs_121909042	1 SubmittersRCV002248991
NM_000492.4(CFTR):c.532G>C (p.Gly178Arg)	SNV Germline	Chr7:117534318	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter		rs_80282562	1 SubmittersRCV002249341
NM_000492.4(CFTR):c.1682C>T (p.Ala561Val)	SNV Germline	Chr7:117590355	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter		rs_121909047	1 SubmittersRCV002249346
NM_000492.4(CFTR):c.2988+2T>G	SNV Germline	Chr7:117606755	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter		rs_1792307406	1 SubmittersRCV002249348
NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)	SNV Germline	Chr1:15443438	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			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			3 SubmittersRCV002335239 RCV003388110
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			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			2 SubmittersRCV002343096 RCV003096563
NM_001379610.1(SPINK1):c.55+1G>A	SNV Germline	Chr5:147831522	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			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			2 SubmittersRCV002371002
NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)	SNV Germline	Chr1:15440525	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			1 SubmittersRCV002395086
NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)	SNV Germline	Chr5:147828042	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			1 SubmittersRCV002407500
NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)	SNV Germline	Chr5:147828113	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			1 SubmittersRCV002389697
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)	SNV Germline	Chr7:142750700	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002415063
NM_007272.3(CTRC):c.1A>G (p.Met1Val)	SNV Germline	Chr1:15438465	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002417109
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:15438466	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			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			2 SubmittersRCV002442314
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)	SNV Germline	Chr1:15443526	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			1 SubmittersRCV003120297
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)	SNV Germline	Chr1:15444632	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			1 SubmittersRCV003305778
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)	SNV Germline	Chr1:15440388	Likely pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			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			2 SubmittersRCV003624082
NM_007272.3(CTRC):c.132G>A (p.Gln44=)	SNV Germline	Chr1:15440391	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV003625109
NM_007272.3(CTRC):c.494-1G>A	SNV Germline	Chr1:15444605	Conflicting classifications of pathogenicity	Hereditary pancreatitis	Criteria Provided Conflicting Classifications			2 SubmittersRCV003829570
NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)	SNV Germline	Chr1:15442462	Pathogenic	Hereditary pancreatitis	Criteria Provided Single Submitter			1 SubmittersRCV004517329

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

SNV
Germline

Chr7:117559548

Pathogenic

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

Reviewed By Expert Panel

CA325518

rs_77101217

18 SubmittersRCV000007526 RCV001004456 RCV000727628 RCV001835623 RCV002288473 RCV002496294 RCV003472999

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

SNV
Germline

Chr7:117530953

Pathogenic; drug response

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

Reviewed By Expert Panel

CA284835

rs_113993958

16 SubmittersRCV000007527 RCV000058930 RCV000780153 RCV000660769 RCV001004427 RCV002247259 RCV001009392 RCV001835624 RCV003473000

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

37 SubmittersRCV000007528 RCV000007529 RCV000078997 RCV000417156 RCV000826137 RCV001009478 RCV000763151 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
Condition: not provided
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

Practice Guideline

CA340630

rs_77932196

20 SubmittersRCV000007530 RCV001004251 RCV001530124 RCV001831520 RCV002504761 RCV003473002

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

SNV
Germline

Chr7:117548795

Pathogenic

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

Practice Guideline

CA340631

rs_74551128

21 SubmittersRCV000007531 RCV000763569 RCV000660853 RCV001004446 RCV001530091 RCV001826427 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
not specified
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

CA340633

rs_80055610

19 SubmittersRCV000007533 RCV000224789 RCV000780134 RCV001831521 RCV001004262 RCV002504762 RCV003473005

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

SNV
Germline

Chr7:117587778

Pathogenic

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

Practice Guideline

CA284836

rs_113993959

34 SubmittersRCV000007535 RCV000058931 RCV000119041 RCV000763572 RCV001004463 RCV003473006 RCV001826428

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

SNV
Germline

Chr7:117587800

Pathogenic; drug response

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

Reviewed By Expert Panel

CA325521

rs_121908755

23 SubmittersRCV000007536 RCV000211264 RCV001004465 RCV000727629 RCV001831522 RCV002247260 RCV002496296 RCV003473007

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

SNV
Germline

Chr7:117587801

Pathogenic; drug response

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

Reviewed By Expert Panel

CA254107

rs_121909005

19 SubmittersRCV000056350 RCV000211129 RCV000508411 RCV001004466 RCV000763573 RCV001826538 RCV003473249

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

SNV
Germline

Chr7:117590394

Pathogenic

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

Reviewed By Expert Panel

CA325523

rs_121908758

11 SubmittersRCV000007539 RCV001009367 RCV001831523 RCV001004269 RCV002490333 RCV003473008 RCV002254259

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

SNV
Germline

Chr7:117587806

Pathogenic

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

27 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
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

Reviewed By Expert Panel

CA340637

rs_75549581

17 SubmittersRCV000007543 RCV000521321 RCV001004261 RCV001826429 RCV002476941 RCV003473010

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

Criteria Provided
Conflicting Classifications

CA146695

rs_74571530

19 SubmittersRCV000007546 RCV000078978 RCV001009496 RCV001281707 RCV001327947 RCV001642200 RCV002255993

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

SNV
Germline

Chr7:117642566

Pathogenic

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

Practice Guideline

CA340638

rs_77010898

32 SubmittersRCV000007549 RCV000271658 RCV000763161 RCV000780159 RCV001004509 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
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
CFTR-related disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Spermatogenic failure, Y-linked, 2

Practice Guideline

CA340641

rs_80034486

38 SubmittersRCV000007556 RCV000224445 RCV001004513 RCV001831530 RCV002255995 RCV003473015 RCV002287325

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

SNV
Germline

Chr7:117627537

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

Practice Guideline

CA340642

rs_74767530

24 SubmittersRCV000007557 RCV000780138 RCV000508142 RCV001004500 RCV001831531 RCV003473016 RCV002504763

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

SNV
Germline

Chr7:117540230

Pathogenic

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

Practice Guideline

CA340644

rs_121909011

28 SubmittersRCV000007559 RCV000224060 RCV000763567 RCV001000033 RCV001826431 RCV001004246 RCV003473017

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

SNV
Germline

Chr7:117587805

Pathogenic; drug response

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

Reviewed By Expert Panel

CA325536

rs_121909013

13 SubmittersRCV000007562 RCV000211256 RCV000224595 RCV001831533 RCV002247261 RCV003473020

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

SNV
Germline

Chr7:117509123

Pathogenic

Cystic fibrosis
Condition: not provided
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

Practice Guideline

CA340647

rs_75961395

23 SubmittersRCV000007563 RCV000224170 RCV001004234 RCV001831534 RCV002490334 RCV003473021

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

SNV
Germline

Chr7:117627525

Pathogenic

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

Reviewed By Expert Panel

CA325537

rs_79850223

18 SubmittersRCV000007564 RCV000579152 RCV000763158 RCV001004499 RCV001831535 RCV003473022

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

SNV
Germline

Chr7:117559546

Pathogenic

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

Reviewed By Expert Panel

CA325551

rs_121909017

12 SubmittersRCV000007575 RCV000763571 RCV001004455 RCV001810836 RCV003473027

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
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

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

Reviewed By Expert Panel

CA325556

rs_143570767

10 SubmittersRCV000007580 RCV001004510 RCV001831540 RCV002496298 RCV003736536

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

SNV
Germline

Chr7:117611637

Pathogenic

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

Reviewed By Expert Panel

CA325558

rs_78194216

23 SubmittersRCV000007582 RCV000723839 RCV001004298 RCV001001063 RCV001831541 RCV002496299 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

Criteria Provided
Conflicting Classifications

CA254112

rs_11971167

18 SubmittersRCV000007584 RCV000046985 RCV000176372 RCV000480239 RCV000587433 RCV001158873

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

SNV
Germline

Chr7:117639961

Pathogenic

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

Practice Guideline

CA249893

rs_75039782

27 SubmittersRCV000007586 RCV000727872 RCV000763159 RCV000507372 RCV001009390 RCV001826438 RCV002257359

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

SNV
Germline

Chr7:117590440

Pathogenic

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

CA340648

rs_121908748

20 SubmittersRCV000007588 RCV000985681 RCV001004273 RCV001027908 RCV001002343 RCV002496300 RCV003473031

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

SNV
Germline

Chr7:117540305

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Cystic fibrosis

Criteria Provided
Conflicting Classifications

rs_76879328

3 SubmittersRCV001293471 RCV002247262 RCV002415404

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.617T>G (p.Leu206Trp)

SNV
Germline

Chr7:117535285

Pathogenic; drug response

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

Reviewed By Expert Panel

CA221035

rs_121908752

28 SubmittersRCV000007611 RCV000079011 RCV000763156 RCV001004443 RCV000660772 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.3266G>A (p.Trp1089Ter)

SNV
Germline

Chr7:117611707

Pathogenic

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

Reviewed By Expert Panel

CA340653

rs_78802634

16 SubmittersRCV000007615 RCV000507617 RCV000763581 RCV001004304 RCV001027902 RCV003473039

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

Reviewed By Expert Panel

CA325583

rs_121908753

18 SubmittersRCV000007619 RCV000660773 RCV000763568 RCV000985669 RCV001004254 RCV001826444 RCV003473041

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

9 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

21 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

Criteria Provided
Multiple Submitters
No Conflicts

CA341152

rs_111033566

16 SubmittersRCV000012652 RCV000763166 RCV001507089 RCV002463587 RCV003103713

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.364C>T (p.Arg122Cys)

SNV
Germline

Chr7:142751937

Pathogenic

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341154

rs_111033568

9 SubmittersRCV000012658 RCV001530066

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_001379610.1(SPINK1):c.41T>G (p.Leu14Arg)

SNV
Germline

Chr5:147831537

Pathogenic

Hereditary pancreatitis

No Assertion Criteria Provided

CA256962

rs_104893939

1 SubmittersRCV000014775

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

SNV
Germline

Chr7:117606754

Pathogenic

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
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 RCV000763580 RCV001027899 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

7 SubmittersRCV000022814 RCV004557257

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

SNV
Germline

Chr7:117548798

Pathogenic

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

Reviewed By Expert Panel

CA325689

rs_193922500

23 SubmittersRCV000029474 RCV000731635 RCV000763570 RCV001001125 RCV001004447 RCV001009542 RCV001331274 RCV003473123

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
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
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.1558G>A (p.Val520Ile)

SNV
Germline

Chr7:117559629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221008

rs_77646904

15 SubmittersRCV000046339 RCV000589201 RCV000855641 RCV001163392 RCV002247397

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

SNV
Germline

Chr7:117590357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240027

rs_1800097

14 SubmittersRCV000029484 RCV000587283 RCV001163395 RCV001526855 RCV002256003

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

Criteria Provided
Conflicting Classifications

CA326704

rs_121908759

21 SubmittersRCV000046498 RCV000506455 RCV000763577 RCV001009381 RCV001004277 RCV001588828 RCV002228058 RCV002256004 RCV003473129

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

SNV
Germline

Chr7:117592169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182840

rs_1800100

23 SubmittersRCV000029490 RCV000155473 RCV000515296 RCV000582625 RCV000583839 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

21 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
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Condition: not provided
CFTR-related disorder
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA260217

rs_1800103

18 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.3140-26A>G

SNV
Germline

Chr7:117611555

Pathogenic

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

Reviewed By Expert Panel

CA342838

rs_76151804

23 SubmittersRCV000029519 RCV001000469 RCV001004294 RCV001009368 RCV000724157 RCV001831610 RCV002482911 RCV003473139

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

19 SubmittersRCV000029527 RCV000079000 RCV000755234 RCV001163789 RCV001642238 RCV001801912 RCV003333727

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

SNV
Germline

Chr7:117627775

Pathogenic

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
Cystic fibrosis

Reviewed By Expert Panel

CA260242

rs_193922520

7 SubmittersRCV000029530 RCV001004503 RCV002496446

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
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Bronchiectasis with or without elevated sweat chloride 1
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.91C>T (p.Arg31Cys)

SNV
Germline

Chr7:117504290

Conflicting classifications of pathogenicity

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

18 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
Condition: not provided
CFTR-related disorder
not specified
Congenital bilateral aplasia of vas deferens from CFTR mutation
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA325718

rs_144476686

14 SubmittersRCV000029549 RCV000590210 RCV001165382 RCV001526859 RCV001588829 RCV001801915 RCV003473147

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

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
Cystic fibrosis
Hereditary pancreatitis
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
Hereditary pancreatitis

Practice Guideline

CA344708

rs_78756941

26 SubmittersRCV000043565 RCV000657900 RCV000763152 RCV001004431 RCV001027898 RCV003473246 RCV002288527

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

SNV
Germline

Chr7:117602868

Pathogenic

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

Practice Guideline

CA344707

rs_80224560

29 SubmittersRCV000043564 RCV000507493 RCV000487256 RCV000763579 RCV001004484 RCV001009372 RCV002257369 RCV001835639 RCV003473241

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

SNV
Germline

Chr7:117611717

Pathogenic

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

Reviewed By Expert Panel

CA269813

rs_121908761

20 SubmittersRCV000056379 RCV000522700 RCV000763157 RCV000781257 RCV001004305 RCV001831621 RCV003473243

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

SNV
Germline

Chr7:117509047

Pathogenic

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

Reviewed By Expert Panel

CA328091

rs_77284892

16 SubmittersRCV000056355 RCV000763147 RCV001004229 RCV001826532 RCV001528716 RCV003473244

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

SNV
Germline

Chr7:117587799

Pathogenic; drug response

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

Reviewed By Expert Panel

CA254108

rs_121908757

11 SubmittersRCV000043664 RCV000211346 RCV000781222 RCV001004464 RCV001826533 RCV002247407 RCV003476914 RCV003466883

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

SNV
Germline

Chr7:117611743

Pathogenic

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

Reviewed By Expert Panel

CA221025

rs_36210737

16 SubmittersRCV000032712 RCV000757078 RCV000781258 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

Criteria Provided
Conflicting Classifications

CA132749

rs_1800095

21 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847

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

SNV
Germline

Chr7:117627640

Pathogenic

Cystic fibrosis
CFTR-related 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

Reviewed By Expert Panel

CA328116

rs_121908763

9 SubmittersRCV000056383 RCV001831711 RCV002490585 RCV003473291

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

SNV
Germline

Chr7:117530898

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

CA345313

rs_121908792

11 SubmittersRCV000056370 RCV000224434 RCV001004422 RCV000763148 RCV001831712 RCV003473292

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

SNV
Germline

Chr7:117530974

Pathogenic; drug response

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

Reviewed By Expert Panel

CA328115

rs_77834169

24 SubmittersRCV000056382 RCV000727627 RCV000763150 RCV001009394 RCV001004428 RCV001826603 RCV003473295 RCV003227627

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

SNV
Germline

Chr7:117534318

Pathogenic; drug response

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

Reviewed By Expert Panel

CA328125

rs_80282562

14 SubmittersRCV000056394 RCV000211246 RCV000508034 RCV000763153 RCV001004435 RCV001831713 RCV003473296 RCV002247425

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

SNV
Germline

Chr7:117540251

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
Bronchiectasis with or without elevated sweat chloride 1

Reviewed By Expert Panel

CA328077

rs_397508144

12 SubmittersRCV000056338 RCV000724655 RCV001004248 RCV002496707 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

7 SubmittersRCV000577686 RCV000729383 RCV000780155 RCV002247432

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

SNV
Germline

Chr7:117540282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA326377

rs_1800086

14 SubmittersRCV000046212 RCV000588868 RCV001000006 RCV001158654 RCV002265581

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

Criteria Provided
Conflicting Classifications

CA175540

rs_147422190

21 SubmittersRCV000046274 RCV000078976 RCV000150335 RCV001004444 RCV001009469 RCV002256030 RCV003473449

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

SNV
Germline

Chr7:117548823

Pathogenic/Likely pathogenic

Cystic fibrosis
Hereditary pancreatitis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_397508198

5 SubmittersRCV001009443 RCV001197496 RCV001357911

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
Cystic fibrosis
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

rs_121908805

5 SubmittersRCV001192400 RCV002390195 RCV002496708 RCV003473453

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

SNV
Germline

Chr7:117589467

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

Reviewed By Expert Panel

CA326604

rs_397508266

16 SubmittersRCV000046417 RCV000724668 RCV000763576 RCV000781239 RCV001004263 RCV001027897

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
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

CA221010

rs_139468767

11 SubmittersRCV000046494 RCV000790746 RCV001004276 RCV002490611 RCV003473470

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

SNV
Germline

Chr7:117509069

Pathogenic; drug response

Cystic fibrosis
ivacaftor response - Efficacy
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
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 RCV000660821 RCV000724153 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
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

CA326730

rs_397508331

9 SubmittersRCV000046523 RCV001831743 RCV002483054 RCV003473473

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

Criteria Provided
Conflicting Classifications

CA221011

rs_140455771

22 SubmittersRCV000078984 RCV000675059 RCV001009488 RCV001588874 RCV002256031 RCV003473479

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

SNV
Germline

Chr7:117592427

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA326784

rs_150157202

17 SubmittersRCV000046566 RCV000242825 RCV000589543 RCV001163690 RCV002255272

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
Condition: not provided
CFTR-related disorder
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

Reviewed By Expert Panel

CA328102

rs_397508378

7 SubmittersRCV000056365 RCV001004478 RCV001200188 RCV001831750 RCV002496712 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

Reviewed By Expert Panel

CA345311

rs_397508387

10 SubmittersRCV000056366 RCV001197557 RCV001826638 RCV003473487

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

SNV
Germline

Chr7:117594945

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA326836

rs_201386642

14 SubmittersRCV000046610 RCV000224075 RCV000825894 RCV002288550

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

SNV
Germline

Chr7:117603558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA326888

rs_201864483

11 SubmittersRCV000508371 RCV000667642 RCV001158765 RCV001265632 RCV001284478 RCV002257389

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

SNV
Germline

Chr7:117509143

Pathogenic

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

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

Reviewed By Expert Panel

CA326900

rs_121909034

9 SubmittersRCV000046665 RCV001009512 RCV003474549 RCV001826646 RCV002256032

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

rs_397508453

3 SubmittersRCV000673430 RCV002247434 RCV003476942

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

Reviewed By Expert Panel

CA326985

rs_397508464

13 SubmittersRCV000505966 RCV000588283 RCV000763149 RCV001004424 RCV001831762 RCV003474560 RCV003476943

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

SNV
Germline

Chr7:117610518

Pathogenic

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

Reviewed By Expert Panel

CA345319

rs_397508470

13 SubmittersRCV000056376 RCV000780171 RCV001781375 RCV001831764 RCV002490613 RCV003466906

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

SNV
Germline

Chr7:117480096

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA327005

rs_397508476

12 SubmittersRCV000046751 RCV001826652 RCV002262607 RCV002477157 RCV003476944

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
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA327097

rs_200321110

16 SubmittersRCV000046823 RCV000506564 RCV001009473 RCV001375487 RCV002226453 RCV003474569

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

SNV
Germline

Chr7:117530975

Conflicting classifications of pathogenicity

Cystic fibrosis
Condition: not provided
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

CA327222

rs_78655421

10 SubmittersRCV000577295 RCV000985692 RCV003474583 RCV003483455

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

SNV
Germline

Chr7:117642451

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

Reviewed By Expert Panel

CA328120

rs_267606723

12 SubmittersRCV000056386 RCV000211150 RCV000763160 RCV001004504 RCV001831779 RCV002247437 RCV003474587

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

11 SubmittersRCV000577447 RCV000585919 RCV001507714 RCV003448254 RCV004537230

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

SNV
Germline

Chr7:117665547

Conflicting classifications of pathogenicity

Cystic fibrosis
not specified
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

8 SubmittersRCV000576918 RCV000781273 RCV001811330 RCV002504943

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

SNV
Germline

Chr7:117665565

Pathogenic

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

Reviewed By Expert Panel

CA327465

rs_372227120

9 SubmittersRCV000576317 RCV001826684 RCV002504944

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

4 SubmittersRCV000577497 RCV000781256 RCV002496714

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

SNV
Germline

Chr7:117667091

Pathogenic/Likely pathogenic

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
Hereditary pancreatitis
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 RCV000388068 RCV000505964 RCV001004311 RCV001009479 RCV002247439 RCV002477161 RCV003466915

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

SNV
Germline

Chr7:117531070

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

CA327493

rs_397508718

3 SubmittersRCV000577096 RCV003883127

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

SNV
Germline

Chr7:117531117

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA327529

rs_377729736

20 SubmittersRCV000047162 RCV000507054 RCV001001769 RCV001009491 RCV002255273 RCV003474605

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
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1
Chronic pancreatitis

Criteria Provided
Conflicting Classifications

CA275301

rs_1800079

23 SubmittersRCV000047174 RCV000178781 RCV000724146 RCV001009504 RCV001802207 RCV003322594 RCV003993779

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

SNV
Germline

Chr7:117534363

Pathogenic

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

Reviewed By Expert Panel

CA221033

rs_397508759

10 SubmittersRCV000047199 RCV000506873 RCV000763154 RCV001831795

NM_000492.4(CFTR):c.580-1G>T

SNV
Germline

Chr7:117535247

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

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
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

Reviewed By Expert Panel

CA328129

rs_121908802

11 SubmittersRCV000056399 RCV000755925 RCV001004441 RCV000763155 RCV001831798

NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr7:117535326

Pathogenic

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

CA327625

rs_397508783

17 SubmittersRCV000047235 RCV000732693 RCV000780160 RCV001004237 RCV001009386 RCV002228163 RCV002477162 RCV003474615

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
CFTR-related disorder
Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146704

rs_1800135

19 SubmittersRCV000079006 RCV000203821 RCV001095182 RCV002255281 RCV001705727

NM_001379610.1(SPINK1):c.194+2T>C

SNV
Germline

Chr5:147828020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA345639

rs_148954387

16 SubmittersRCV000119031 RCV000626838 RCV000763134 RCV001249189 RCV001529765 RCV003398721

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

5 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_000492.3(CFTR):c.-461A>G

SNV
Germline

Chr7:117479634

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA274286

rs_185028612

8 SubmittersRCV000169416 RCV000593113 RCV002257473 RCV004535148

NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)

SNV
Germline

Chr7:117548743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239134

rs_201434579

6 SubmittersRCV000265349 RCV000436508 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
not specified
CFTR-related disorder
Infertility disorder
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA350158

rs_1800110

25 SubmittersRCV000206091 RCV000587447 RCV000664323 RCV001160121 RCV001327945 RCV001762431 RCV003468932

NM_007272.3(CTRC):c.-59C>T

SNV
Germline

Chr1:15438406

Conflicting classifications of pathogenicity

Hereditary pancreatitis
CTRC-related disorder

Criteria Provided
Conflicting Classifications

CA10581725

rs_183658182

5 SubmittersRCV000230316 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

8 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
CFTR-related disorder
Cystic fibrosis
Obstructive azoospermia
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4451158

rs_151235408

16 SubmittersRCV000247513 RCV000586139 RCV001163688 RCV001085588 RCV001640481 RCV002255346

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

6 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
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

CA4451133

rs_201295415

8 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.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_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.198A>C (p.Lys66Asn)

SNV
Germline

Chr5:147824703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3494755

rs_143014431

5 SubmittersRCV000476237 RCV000780756 RCV001508178 RCV003431019

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3494753

rs_760077990

7 SubmittersRCV000461801 RCV000588967 RCV001002652

NM_000492.4(CFTR):c.2908+1G>A

SNV
Germline

Chr7:117603783

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16612092

rs_1060503164

6 SubmittersRCV000465662 RCV003230503 RCV001828481 RCV003476096

NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)

SNV
Germline

Chr7:117667022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4451697

rs_4148725

14 SubmittersRCV000456157 RCV000507912 RCV001002200 RCV001160218 RCV002255397

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
Hereditary pancreatitis
CFTR-related disorder

Criteria Provided
Conflicting Classifications

CA4451673

rs_138025486

9 SubmittersRCV000586481 RCV000664604 RCV001778983 RCV002255421 RCV004541576

NM_007272.3(CTRC):c.640-12G>A

SNV
Germline

Chr1:15445585

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA613432

rs_183053579

5 SubmittersRCV000507043 RCV002248742

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.592-24C>T

SNV
Germline

Chr7:142752844

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

CA4530105

rs_192452846

3 SubmittersRCV000506466 RCV002056912

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_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

5 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_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.3274T>C (p.Tyr1092His)

SNV
Germline

Chr7:117611715

Conflicting classifications of pathogenicity

Condition: not provided
Cystic fibrosis
not specified
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

CA4451415

rs_376968326

12 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
Cystic fibrosis
Hereditary pancreatitis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
CFTR-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4451489

rs_368393738

8 SubmittersRCV000594547 RCV001245034 RCV002491175 RCV001834866 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_002769.5(PRSS1):c.508A>G (p.Lys170Glu)

SNV
Germline

Chr7:142752484

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

CA4530041

rs_201550522

5 SubmittersRCV000611439 RCV001174692

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

SNV
Germline

Chr16:89553871

Pathogenic

Hereditary spastic paraplegia 7
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA8244506

rs_369503365

2 SubmittersRCV000640984 RCV004526729

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

SNV
Germline

Chr5:147829598

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

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

rs_948980243

3 SubmittersRCV000665651 RCV002257922

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_772436044

3 SubmittersRCV000702315

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

SNV
Germline

Chr1:15440492

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

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

rs_747905422

4 SubmittersRCV000698829 RCV003489821

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

SNV
Germline

Chr1:15445703

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142560329

3 SubmittersRCV000685719 RCV000757145

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

rs_770387107

4 SubmittersRCV000691584 RCV000780757

NM_000492.4(CFTR):c.489+87A>G

SNV
Germline

Chr7:117531201

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_969399514

3 SubmittersRCV000731922 RCV002485906 RCV002535244

NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)

SNV
Germline

Chr1:15444662

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

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

rs_368871387

2 SubmittersRCV001154660 RCV001811466

NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)

SNV
Germline

Chr7:117531098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_397508725

10 SubmittersRCV000757874 RCV000781275 RCV001835951 RCV003472278 RCV004576966

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

SNV
Germline

Chr5:147831522

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

rs_1561606446

1 SubmittersRCV000780760

NM_007272.3(CTRC):c.154A>G (p.Asn52Asp)

SNV
Germline

Chr1:15440514

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_1199793577

2 SubmittersRCV000817908

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

SNV
Germline

Chr1:15444605

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_766917452

3 SubmittersRCV000821957

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

SNV
Germline

Chr1:15443431

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

rs_554399153

3 SubmittersRCV000870123 RCV003238251

NM_002769.5(PRSS1):c.200+10G>T

SNV
Germline

Chr7:142750724

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

rs_200217253

2 SubmittersRCV000866853 RCV001797802

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

SNV
Germline

Chr1:15440534

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

rs_1570783505

2 SubmittersRCV001002268

NM_002769.5(PRSS1):c.40+15C>T

SNV
Germline

Chr7:142749539

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_760370254

3 SubmittersRCV001002209 RCV002068787

NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)

SNV
Germline

Chr1:15444707

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

rs_147925927

4 SubmittersRCV001222531 RCV001509022

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_782790983

2 SubmittersRCV001229837 RCV002445197

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

rs_781284605

4 SubmittersRCV001066569 RCV003480904

NM_001868.4(CPA1):c.330G>T (p.Arg110=)

SNV
Germline

Chr7:130381812

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_1260418233

2 SubmittersRCV001067977 RCV002320341

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

SNV
Germline

Chr1:15440340

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_749455108

3 SubmittersRCV001096352

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

SNV
Germline

Chr1:15443547

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_775404479

3 SubmittersRCV001098100

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

SNV
Germline

Chr1:15445599

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_1265655451

3 SubmittersRCV001099889

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

SNV
Germline

Chr1:15440597

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

rs_371799801

2 SubmittersRCV001101883

NM_001379610.1(SPINK1):c.87+7A>T

SNV
Germline

Chr5:147829592

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_1756473313

2 SubmittersRCV001199917 RCV001409047

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

SNV
Germline

Chr7:142749524

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_747228052

4 SubmittersRCV001209412

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

SNV
Germline

Chr7:142750680

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_147366981

2 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

rs_782301578

2 SubmittersRCV001242201 RCV002327585

NM_002769.5(PRSS1):c.454+7G>A

SNV
Germline

Chr7:142752034

Conflicting classifications of pathogenicity

Hereditary pancreatitis
not specified

Criteria Provided
Conflicting Classifications

rs_755175379

2 SubmittersRCV001237992 RCV002271634

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

rs_202049497

4 SubmittersRCV001287787 RCV003973185

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

SNV
Germline

Chr7:130383733

Conflicting classifications of pathogenicity

Hereditary pancreatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_540251433

2 SubmittersRCV002366145 RCV001304073

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

rs_540251433

2 SubmittersRCV001298380 RCV002366126

NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp)

SNV
Germline

Chr5:147828026

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_1261616345

2 SubmittersRCV001341846

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

rs_533389472

2 SubmittersRCV001343646 RCV003169654

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

SNV
Germline

Chr7:142749490

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_140591237

2 SubmittersRCV001343355

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

rs_559471767

2 SubmittersRCV001424927 RCV002420953

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

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

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

rs_1376416883

2 SubmittersRCV001486580

NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)

SNV
Germline

Chr1:15440541

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_769482036

2 SubmittersRCV001803476

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

SNV
Germline

Chr7:142752433

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_61735002

3 SubmittersRCV001907380

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

SNV
Germline

Chr7:142751775

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_145867820

2 SubmittersRCV001973444

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

rs_782790782

2 SubmittersRCV001874904 RCV004040570

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

SNV
Germline

Chr1:15445745

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_149197463

7 SubmittersRCV002043439 RCV002287524 RCV002479801 RCV003481252 RCV004538742

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

rs_782638392

2 SubmittersRCV002200197 RCV002256902

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

SNV
Germline

Chr7:130385141

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

rs_201705049

2 SubmittersRCV002199914 RCV002407364

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

SNV
Germline

Chr7:142752046

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

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

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

rs_121909042

1 SubmittersRCV002248991

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

SNV
Germline

Chr7:117534318

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

rs_80282562

1 SubmittersRCV002249341

NM_000492.4(CFTR):c.1682C>T (p.Ala561Val)

SNV
Germline

Chr7:117590355

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

rs_121909047

1 SubmittersRCV002249346

NM_000492.4(CFTR):c.2988+2T>G

SNV
Germline

Chr7:117606755

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

rs_1792307406

1 SubmittersRCV002249348

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

SNV
Germline

Chr1:15443438

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

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

3 SubmittersRCV002335239 RCV003388110

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

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

2 SubmittersRCV002343096 RCV003096563

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

SNV
Germline

Chr5:147831522

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

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

2 SubmittersRCV002371002

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

SNV
Germline

Chr1:15440525

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

1 SubmittersRCV002395086

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

SNV
Germline

Chr5:147828042

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

1 SubmittersRCV002407500

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

SNV
Germline

Chr5:147828113

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

1 SubmittersRCV002389697

NM_002769.5(PRSS1):c.186C>T (p.Gly62=)

SNV
Germline

Chr7:142750700

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002415063

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

SNV
Germline

Chr1:15438465

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002417109

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

SNV
Germline

Chr1:15438466

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

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

2 SubmittersRCV002442314

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

SNV
Germline

Chr1:15443526

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

1 SubmittersRCV003120297

NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr1:15444632

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

1 SubmittersRCV003305778

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

SNV
Germline

Chr1:15440388

Likely pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

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

2 SubmittersRCV003624082

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

SNV
Germline

Chr1:15440391

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003625109

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

SNV
Germline

Chr1:15444605

Conflicting classifications of pathogenicity

Hereditary pancreatitis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003829570

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

SNV
Germline

Chr1:15442462

Pathogenic

Hereditary pancreatitis

Criteria Provided
Single Submitter

1 SubmittersRCV004517329