Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)	SNV Germline	Chr4:148435252	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1 Autism spectrum disorder	Criteria Provided Single Submitter	CA119730	rs_121912562	2 SubmittersRCV000009086 RCV000754683
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro)	SNV Germline	Chr4:148114132	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Single Submitter	CA119734	rs_121912563	2 SubmittersRCV000009090 RCV001804719
NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)	SNV Germline	Chr4:148194825	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119736	rs_121912564	1 SubmittersRCV000009093
NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg)	SNV Germline	Chr4:148154589	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119738	rs_121912565	1 SubmittersRCV000009094
NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg)	SNV Germline	Chr4:148259978	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119740	rs_121912566	1 SubmittersRCV000009095
NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro)	SNV Germline	Chr4:148081363	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119742	rs_121912567	1 SubmittersRCV000009096
NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter)	SNV Germline	Chr4:148436373	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119744	rs_121912568	1 SubmittersRCV000009097
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter)	SNV Germline	Chr4:148081460	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1 Autosomal dominant pseudohypoaldosteronism type 1 Pseudohyperaldosteronism type 2	Criteria Provided Single Submitter	CA119746	rs_121912569	2 SubmittersRCV000009098 RCV002496310
NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter)	SNV Germline	Chr4:148435553	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119748	rs_121912570	1 SubmittersRCV000009099
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter)	SNV Germline	Chr4:148154899	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter	CA119750	rs_121912571	2 SubmittersRCV000009100
NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter)	SNV Germline	Chr4:148154892	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119752	rs_121912572	1 SubmittersRCV000009101
NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu)	SNV Germline	Chr4:148152526	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Single Submitter	CA119754	rs_121912573	2 SubmittersRCV000009102 RCV003555981
NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly)	SNV Germline	Chr4:148081384	Pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA119757	rs_121912574	1 SubmittersRCV000009103
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	SNV Germline	Chr16:23380574	Pathogenic	Liddle syndrome 1 Condition: not provided Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Multiple Submitters No Conflicts	CA119956	rs_137852704	6 SubmittersRCV000009378 RCV000713386 RCV002504771
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)	SNV Germline	Chr16:23348708	Conflicting classifications of pathogenicity	Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Pseudohypoaldosteronism, type IB2, autosomal recessive Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA119959	rs_137852706	2 SubmittersRCV001120417 RCV001120139 RCV002310627 RCV000009380
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	SNV Germline	Chr16:23367879	Likely pathogenic	Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Single Submitter	CA119964	rs_137852709	2 SubmittersRCV000009386 RCV002496312
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	SNV Germline	Chr16:23348844	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 not specified Condition: not provided Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 SCNN1B-related disorder	Criteria Provided Conflicting Classifications	CA119969	rs_35731153	14 SubmittersRCV000009392 RCV000175586 RCV000713389 RCV001120418 RCV001120419 RCV003914823
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)	SNV Germline	Chr12:6348981	Pathogenic/Likely pathogenic	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Liddle syndrome 3 Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Multiple Submitters No Conflicts	CA120270	rs_137852634	3 SubmittersRCV000009846 RCV002298438 RCV002482850
NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu)	SNV Germline	Chr12:6348198	Likely pathogenic	Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Single Submitter	CA120272	rs_137852635	2 SubmittersRCV000009849 RCV003162223
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)	SNV Germline	Chr16:23375806	Conflicting classifications of pathogenicity	not specified Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA183066	rs_2303156	4 SubmittersRCV000155571 RCV000300321 RCV000399158 RCV000355118 RCV003416010
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)	SNV Germline	Chr12:6354776	Conflicting classifications of pathogenicity	not specified Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6405952	rs_149484264	4 SubmittersRCV000215836 RCV000337981 RCV000280531 RCV002518203 RCV002518202
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)	SNV Germline	Chr16:23380584	Conflicting classifications of pathogenicity	not specified Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided SCNN1B-related disorder	Criteria Provided Conflicting Classifications	CA7960616	rs_140927806	5 SubmittersRCV000220161 RCV000402338 RCV000344774 RCV000305202 RCV000901498 RCV003937856
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)	SNV Germline	Chr16:23215094	Conflicting classifications of pathogenicity	not specified Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Condition: not provided SCNN1G-related disorder	Criteria Provided Conflicting Classifications	CA7959940	rs_72647541	5 SubmittersRCV000278515 RCV000284257 RCV000341572 RCV000725881 RCV003930124
NM_003590.5(CUL3):c.*2272T>C	SNV Germline	Chr2:224471973	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E Condition: not provided	Criteria Provided Conflicting Classifications	CA10612582	rs_556914502	2 SubmittersRCV000380730 RCV001141958 RCV002274986
NM_003590.5(CUL3):c.*2130A>G	SNV Germline	Chr2:224472115	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided Pseudohypoaldosteronism type 2E	Criteria Provided Conflicting Classifications	CA10612590	rs_555995940	2 SubmittersRCV000292532 RCV002274987 RCV001143759
NM_003590.5(CUL3):c.*3665T>A	SNV Germline	Chr2:224470580	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E	Criteria Provided Conflicting Classifications	CA10612909	rs_374191606	1 SubmittersRCV000371517 RCV001143652
NM_003590.5(CUL3):c.*89A>T	SNV Germline	Chr2:224474156	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E	Criteria Provided Conflicting Classifications	CA10612934	rs_192166927	1 SubmittersRCV000393904 RCV001140228
NM_003590.5(CUL3):c.*3753T>C	SNV Germline	Chr2:224470492	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E	Criteria Provided Conflicting Classifications	CA10614351	rs_558805673	1 SubmittersRCV000370481 RCV001143650
NM_003590.5(CUL3):c.*294A>G	SNV Germline	Chr2:224473951	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E Condition: not provided	Criteria Provided Conflicting Classifications	CA10614375	rs_532967850	2 SubmittersRCV000371433 RCV001140225 RCV003311765
NM_000901.5(NR3C2):c.739A>T (p.Arg247Trp)	SNV Germline	Chr4:148436122	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3100414	rs_149902988	2 SubmittersRCV000395090 RCV003736740
NM_017415.3(KLHL3):c.*2360G>A	SNV Germline	Chr5:137619738	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10619065	rs_533076689	1 SubmittersRCV000356476 RCV001153999
NM_017415.3(KLHL3):c.*1583C>T	SNV Germline	Chr5:137620515	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10619068	rs_554048189	1 SubmittersRCV000350076 RCV001154858
NM_017415.3(KLHL3):c.*299G>A	SNV Germline	Chr5:137621799	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10619084	rs_539132895	1 SubmittersRCV000293639 RCV001154113
NM_017415.3(KLHL3):c.1021+5G>A	SNV Germline	Chr5:137639855	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D Condition: not provided	Criteria Provided Conflicting Classifications	CA3422320	rs_183499982	2 SubmittersRCV000366474 RCV001156624 RCV003718222
NM_000901.5(NR3C2):c.2087C>T (p.Pro696Leu)	SNV Germline	Chr4:148154829	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3100176	rs_368322580	2 SubmittersRCV000262756 RCV004021941
NM_017415.3(KLHL3):c.*4066C>T	SNV Germline	Chr5:137618032	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10620201	rs_544519958	1 SubmittersRCV000391622 RCV001153902
NM_017415.3(KLHL3):c.*790G>A	SNV Germline	Chr5:137621308	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10620231	rs_572765305	1 SubmittersRCV000303268 RCV001152838
NM_017415.3(KLHL3):c.*224G>T	SNV Germline	Chr5:137621874	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10620234	rs_536807069	1 SubmittersRCV000350908 RCV001154114
NM_017415.3(KLHL3):c.*141C>T	SNV Germline	Chr5:137621957	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10622704	rs_189064290	1 SubmittersRCV000279955 RCV001154117
NM_017415.3(KLHL3):c.756G>A (p.Thr252=)	SNV Germline	Chr5:137658278	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA3422390	rs_143617205	1 SubmittersRCV000278015 RCV001151153
NM_017415.3(KLHL3):c.-303G>C	SNV Germline	Chr5:137735949	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10622737	rs_567542768	1 SubmittersRCV000367355 RCV001156727
NM_017415.3(KLHL3):c.*1651C>T	SNV Germline	Chr5:137620447	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA10622780	rs_577834025	1 SubmittersRCV000292776 RCV001154857
NM_017415.3(KLHL3):c.*39G>A	SNV Germline	Chr5:137622059	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D	Criteria Provided Conflicting Classifications	CA3422096	rs_762735618	1 SubmittersRCV000399262 RCV001154119
NM_001038.6(SCNN1A):c.*914A>G	SNV Germline	Chr12:6346959	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10633446	rs_62619209	2 SubmittersRCV000260601 RCV000315805 RCV001785558
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=)	SNV Germline	Chr12:6348197	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6405734	rs_199526819	2 SubmittersRCV000299120 RCV000397367 RCV002522246
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)	SNV Germline	Chr12:6348797	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA6405774	rs_72657550	1 SubmittersRCV000337730 RCV000400458
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)	SNV Germline	Chr12:6349177	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6405834	rs_148749888	3 SubmittersRCV000328262 RCV000385070 RCV000728158 RCV000949782
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=)	SNV Germline	Chr12:6362086	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6406097	rs_139335335	2 SubmittersRCV000292539 RCV000375279 RCV000924063
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)	SNV Germline	Chr16:23192509	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7959649	rs_72646501	4 SubmittersRCV000341227 RCV000399950 RCV000713394 RCV003479098
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	SNV Germline	Chr16:23215108	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7959943	rs_148985177	6 SubmittersRCV000287850 RCV000379928 RCV001200889 RCV002522828
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)	SNV Germline	Chr16:23348845	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA7960092	rs_757137077	1 SubmittersRCV000270676 RCV000310527 RCV000365127
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)	SNV Germline	Chr16:23380778	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7960675	rs_776613953	4 SubmittersRCV000297058 RCV000354087 RCV000399722 RCV002522834 RCV002520998
NM_001038.6(SCNN1A):c.*296C>T	SNV Germline	Chr12:6347577	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10638276	rs_55981728	3 SubmittersRCV000359167 RCV000390258 RCV002285308
NM_001038.6(SCNN1A):c.*113C>T	SNV Germline	Chr12:6347760	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications	CA10638279	rs_62620999	1 SubmittersRCV000260787 RCV000318293
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=)	SNV Germline	Chr12:6347948	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA6405684	rs_370406973	3 SubmittersRCV000289961 RCV000382052 RCV000897396
NM_001038.6(SCNN1A):c.-54-14C>T	SNV Germline	Chr12:6374851	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA6406349	rs_61758858	1 SubmittersRCV000291929 RCV000339903
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=)	SNV Germline	Chr12:6354499	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6405920	rs_375712066	3 SubmittersRCV000286272 RCV000378570 RCV001200576
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly)	SNV Germline	Chr12:6355342	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6405996	rs_569195112	2 SubmittersRCV000350992 RCV000395520 RCV003727659
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys)	SNV Germline	Chr12:6362180	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications	CA6406118	rs_142409152	1 SubmittersRCV000295692 RCV000343569
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln)	SNV Germline	Chr12:6348117	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6405713	rs_775290860	2 SubmittersRCV000286142 RCV000343386 RCV003243065
NM_001038.6(SCNN1A):c.1554-6C>T	SNV Germline	Chr12:6348808	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA6405777	rs_376456435	1 SubmittersRCV000312025 RCV000369009
NM_001038.6(SCNN1A):c.1497+6G>C	SNV Germline	Chr12:6349158	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA6405829	rs_144275086	2 SubmittersRCV000276726 RCV000315468 RCV000961179
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=)	SNV Germline	Chr12:6349176	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6405832	rs_3764873	3 SubmittersRCV000270746 RCV000363055 RCV000825085 RCV000898186
NM_001038.6(SCNN1A):c.876-13C>T	SNV Germline	Chr12:6355893	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA6406067	rs_201235216	2 SubmittersRCV000260717 RCV000318224 RCV002520828
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys)	SNV Germline	Chr12:6362100	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA6406100	rs_759933475	1 SubmittersRCV000330908 RCV000387793
NM_001039.4(SCNN1G):c.*1370G>A	SNV Germline	Chr16:23216839	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2	Criteria Provided Conflicting Classifications	CA10643203	rs_72647550	1 SubmittersRCV000306591 RCV000401574
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)	SNV Germline	Chr16:23352917	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960149	rs_199810483	2 SubmittersRCV000278132 RCV000318042 RCV000372576 RCV003736715
NM_000336.3(SCNN1B):c.586-15T>C	SNV Germline	Chr16:23355284	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA7960198	rs_371098444	1 SubmittersRCV000304551 RCV000345224 RCV000401503
NM_000336.3(SCNN1B):c.1270+11G>T	SNV Germline	Chr16:23375866	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1	Criteria Provided Conflicting Classifications	CA7960416	rs_369905217	1 SubmittersRCV000275114 RCV000330301 RCV000366256
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)	SNV Germline	Chr16:23380423	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided SCNN1B-related disorder	Criteria Provided Conflicting Classifications	CA7960580	rs_61759916	6 SubmittersRCV000293600 RCV000352019 RCV000385551 RCV000891159 RCV003922341
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)	SNV Germline	Chr16:23380642	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications	CA7960632	rs_762486495	2 SubmittersRCV000261497 RCV000353782 RCV000908558 RCV000333082
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=)	SNV Germline	Chr16:23213122	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7959879	rs_72647527	2 SubmittersRCV000262450 RCV000373430 RCV000934297
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)	SNV Germline	Chr16:23352955	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Condition: not provided SCNN1B-related disorder	Criteria Provided Conflicting Classifications	CA7960155	rs_139310448	6 SubmittersRCV000293856 RCV000352207 RCV000388075 RCV001171907 RCV003940245
NM_000336.3(SCNN1B):c.1419C>T (p.His473=)	SNV Germline	Chr16:23378720	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960509	rs_193211556	2 SubmittersRCV000265772 RCV000305530 RCV000360291 RCV002520995
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His)	SNV Germline	Chr16:23380141	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960554	rs_138784278	2 SubmittersRCV000294815 RCV000317498 RCV000372180 RCV002520996
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=)	SNV Germline	Chr16:23380591	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960617	rs_758251652	2 SubmittersRCV000262545 RCV000301289 RCV000359654 RCV000920461
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)	SNV Germline	Chr16:23380765	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7960670	rs_61759917	4 SubmittersRCV000284147 RCV000336877 RCV000394686 RCV000891576 RCV001289233
NM_001039.4(SCNN1G):c.-23G>A	SNV Germline	Chr16:23186249	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA7959464	rs_762522517	1 SubmittersRCV000287935 RCV000382328
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=)	SNV Germline	Chr16:23189452	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2	Criteria Provided Conflicting Classifications	CA7959565	rs_200985912	1 SubmittersRCV000293883 RCV000348767
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=)	SNV Germline	Chr16:23189530	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7959583	rs_145602271	2 SubmittersRCV000302328 RCV000407520 RCV003417993
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp)	SNV Germline	Chr16:23189591	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7959590	rs_763601481	2 SubmittersRCV000266905 RCV000361738 RCV002508210
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe)	SNV Germline	Chr16:23215346	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Condition: not provided SCNN1G-related disorder	Criteria Provided Conflicting Classifications	CA7959981	rs_745715995	3 SubmittersRCV000345193 RCV000398385 RCV002522829 RCV003969899
NM_001039.4(SCNN1G):c.*328G>A	SNV Germline	Chr16:23215797	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA10648096	rs_56153525	1 SubmittersRCV000325546 RCV000382449
NM_001039.4(SCNN1G):c.*1147A>G	SNV Germline	Chr16:23216616	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2	Criteria Provided Conflicting Classifications	CA10648102	rs_80081880	1 SubmittersRCV000295220 RCV000333799
NM_000336.3(SCNN1B):c.561C>T (p.His187=)	SNV Germline	Chr16:23353050	Conflicting classifications of pathogenicity	Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960172	rs_773448523	2 SubmittersRCV000309103 RCV000348803 RCV000395260 RCV003114480
NM_000336.3(SCNN1B):c.1270+14C>T	SNV Germline	Chr16:23375869	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960418	rs_141909058	2 SubmittersRCV000271759 RCV000326826 RCV000381470 RCV002522833
NM_000336.3(SCNN1B):c.1346+8C>T	SNV Germline	Chr16:23377248	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960467	rs_200714599	2 SubmittersRCV000278059 RCV000351861 RCV000399676 RCV000916155
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=)	SNV Germline	Chr16:23380564	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7960606	rs_541449814	3 SubmittersRCV000306294 RCV000346058 RCV000395462 RCV002520997
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr4:148194809	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant pseudohypoaldosteronism type 1 Autosomal dominant pseudohypoaldosteronism type 1 Pseudohyperaldosteronism type 2 NR3C2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA358428661	rs_1131691921	4 SubmittersRCV000493937 RCV001332610 RCV001535946 RCV004535554
NM_001038.6(SCNN1A):c.875+1G>A	SNV Germline	Chr12:6362050	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Multiple Submitters No Conflicts	CA6406085	rs_142439390	3 SubmittersRCV000519225 RCV003227777
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	SNV Germline	Chr16:23214768	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Bronchiectasis with or without elevated sweat chloride 3	Criteria Provided Conflicting Classifications	CA7959909	rs_144653364	3 SubmittersRCV000519048 RCV000764039
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter)	SNV Germline	Chr16:23371805	Likely pathogenic	Autosomal recessive pseudohypoaldosteronism type 1	No Assertion Criteria Provided	CA395109859	rs_1182475940	1 SubmittersRCV000578168
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)	SNV Germline	Chr2:224557750	Likely pathogenic	Condition: not provided Autosomal dominant pseudohypoaldosteronism type 1 NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES	Criteria Provided Multiple Submitters No Conflicts		rs_1553535841	4 SubmittersRCV000677281 RCV000987041 RCV001352922
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)	SNV Germline	Chr12:6349331	Conflicting classifications of pathogenicity	Liddle syndrome 3 Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 3 Bronchiectasis with or without elevated sweat chloride 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201873521	3 SubmittersRCV000680280 RCV001535947 RCV003546588
NM_001038.6(SCNN1A):c.-55+2T>C	SNV Germline	Chr12:6375503	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_772498945	3 SubmittersRCV000722903 RCV000779114 RCV001114923
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)	SNV Germline	Chr4:148114148	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_1553986377	1 SubmittersRCV000761320
NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg)	SNV Germline	Chr4:148114246	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_1560928649	1 SubmittersRCV000761556
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter)	SNV Germline	Chr12:6348112	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_771949339	1 SubmittersRCV000779111 RCV001114825
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=)	SNV Germline	Chr12:6374658	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_138995556	3 SubmittersRCV000959924 RCV001115037 RCV001115038
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu)	SNV Germline	Chr12:6348983	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148959452	3 SubmittersRCV000914391 RCV001109184 RCV001109185 RCV002540873
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=)	SNV Germline	Chr12:6374637	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_200770604	2 SubmittersRCV000918429 RCV001115036 RCV001115035
NM_001038.6(SCNN1A):c.1439+1G>A	SNV Unknown	Chr12:6349326	Pathogenic/Likely pathogenic	Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Liddle syndrome 3	Criteria Provided Multiple Submitters No Conflicts		rs_1369791519	2 SubmittersRCV000988776 RCV002497281
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)	SNV Germline	Chr16:23213146	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2	Criteria Provided Conflicting Classifications		rs_146420892	3 SubmittersRCV000996237 RCV001121615 RCV001121616
NM_001038.6(SCNN1A):c.*467C>A	SNV Germline	Chr12:6347406	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_140681881	1 SubmittersRCV001113336 RCV001113337
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=)	SNV Germline	Chr12:6347879	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications		rs_539360032	1 SubmittersRCV001111427 RCV001111428
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)	SNV Germline	Chr12:6348078	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_751903373	1 SubmittersRCV001113424 RCV001113423
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg)	SNV Germline	Chr12:6348082	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Conflicting Classifications		rs_755287192	1 SubmittersRCV001113425 RCV001113426
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe)	SNV Germline	Chr12:6349372	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369382063	2 SubmittersRCV001111518 RCV001113507 RCV004032165
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=)	SNV Germline	Chr16:23186403	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_774767092	2 SubmittersRCV001117993 RCV001117992 RCV003546627
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser)	SNV Germline	Chr16:23215380	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_139012605	2 SubmittersRCV001118193 RCV001118192 RCV002556514
NM_001039.4(SCNN1G):c.*230C>T	SNV Germline	Chr16:23215699	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications		rs_72647546	1 SubmittersRCV001119743 RCV001119744
NM_001039.4(SCNN1G):c.*491G>A	SNV Germline	Chr16:23215960	Conflicting classifications of pathogenicity	Liddle syndrome 2 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications		rs_146413363	1 SubmittersRCV001116855 RCV001121718
NM_000336.3(SCNN1B):c.6C>T (p.His2=)	SNV Germline	Chr16:23348605	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided SCNN1B-related disorder	Criteria Provided Conflicting Classifications		rs_564570566	3 SubmittersRCV001120138 RCV001120136 RCV001120137 RCV002558190 RCV003953497
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	SNV Germline	Chr16:23355330	Conflicting classifications of pathogenicity	Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201279350	2 SubmittersRCV001120527 RCV001120526 RCV001120525 RCV003727871
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)	SNV Germline	Chr16:23371336	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications		rs_374264520	1 SubmittersRCV001120624 RCV001120623 RCV001120622
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)	SNV Germline	Chr16:23371423	Conflicting classifications of pathogenicity	Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_13306633	2 SubmittersRCV001120626 RCV001120627 RCV001120625 RCV002556592
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	SNV Germline	Chr16:23375814	Conflicting classifications of pathogenicity	Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200966246	3 SubmittersRCV001117139 RCV001117137 RCV001117138 RCV002558158 RCV002556487
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)	SNV Germline	Chr16:23377358	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201369319	4 SubmittersRCV001115796 RCV001115797 RCV001115795 RCV001786435 RCV002556282
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=)	SNV Germline	Chr16:23380438	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications		rs_146440372	1 SubmittersRCV001120820 RCV001120821 RCV001120822
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=)	SNV Germline	Chr16:23380438	Conflicting classifications of pathogenicity	Liddle syndrome 1 Bronchiectasis with or without elevated sweat chloride 1 Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications		rs_146440372	1 SubmittersRCV001115887 RCV001115888 RCV001120823
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln)	SNV Germline	Chr16:23380572	Conflicting classifications of pathogenicity	Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1	Criteria Provided Conflicting Classifications		rs_13306627	1 SubmittersRCV001115889 RCV001115890 RCV001115891
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)	SNV Germline	Chr16:23380635	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_147926991	2 SubmittersRCV001118954 RCV001118953 RCV001118955 RCV002558176
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)	SNV Germline	Chr16:23380667	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_373718332	2 SubmittersRCV001120924 RCV001120923 RCV001120922 RCV002556598
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)	SNV Germline	Chr16:23380668	Conflicting classifications of pathogenicity	Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 1	Criteria Provided Conflicting Classifications		rs_140945152	1 SubmittersRCV001115998 RCV001115999 RCV001115997
NM_000336.3(SCNN1B):c.1404+7C>T	SNV Germline	Chr16:23377393	Conflicting classifications of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Autosomal recessive pseudohypoaldosteronism type 1 Condition: not provided SCNN1B-related disorder	Criteria Provided Conflicting Classifications		rs_1485041245	3 SubmittersRCV001117230 RCV001117231 RCV001117229 RCV003546626 RCV003945827
NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu)	SNV Germline	Chr4:148435481	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149589666	2 SubmittersRCV001150586 RCV002557248
NM_000901.5(NR3C2):c.1272A>G (p.Ser424=)	SNV Germline	Chr4:148435589	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided NR3C2-related disorder	Criteria Provided Conflicting Classifications		rs_368453653	3 SubmittersRCV001150588 RCV002559452 RCV004538376
NM_001038.6(SCNN1A):c.1361-2A>G	SNV Germline	Chr12:6349407	Pathogenic	Autosomal recessive pseudohypoaldosteronism type 1	No Assertion Criteria Provided		rs_1948331954	1 SubmittersRCV001280871
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter)	SNV Germline	Chr4:148114136	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_1553986374	1 SubmittersRCV001375996
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr16:23212701	Likely pathogenic	Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_764425655	1 SubmittersRCV001449732
NM_000901.5(NR3C2):c.1799C>A (p.Ser600Ter)	SNV Germline	Chr4:148260076	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_2149871784	1 SubmittersRCV001823793
NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter)	SNV Germline	Chr16:23353028	Pathogenic	Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_2142020387	1 SubmittersRCV001837048
NM_001038.6(SCNN1A):c.1360+2T>G	SNV Germline	Chr12:6354436	Pathogenic	Autosomal recessive pseudohypoaldosteronism type 1	Criteria Provided Single Submitter		rs_2136865918	1 SubmittersRCV002052208
NM_000901.5(NR3C2):c.2657T>A (p.Leu886His)	SNV Germline	Chr4:148114246	Likely pathogenic	Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Single Submitter			1 SubmittersRCV002288415
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)	SNV Germline	Chr4:148154722	Pathogenic	Condition: not provided Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002505932 RCV003320392
NM_001038.6(SCNN1A):c.1361-3C>G	SNV Germline	Chr12:6349408	Pathogenic	Liddle syndrome 3 Autosomal recessive pseudohypoaldosteronism type 1 Bronchiectasis with or without elevated sweat chloride 2	Criteria Provided Single Submitter			1 SubmittersRCV003883309

NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)

SNV
Germline

Chr4:148435252

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1
Autism spectrum disorder

Criteria Provided
Single Submitter

CA119730

rs_121912562

2 SubmittersRCV000009086 RCV000754683

NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro)

SNV
Germline

Chr4:148114132

Likely pathogenic

Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Single Submitter

CA119734

rs_121912563

2 SubmittersRCV000009090 RCV001804719

NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)

SNV
Germline

Chr4:148194825

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119736

rs_121912564

1 SubmittersRCV000009093

NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg)

SNV
Germline

Chr4:148154589

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119738

rs_121912565

1 SubmittersRCV000009094

NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg)

SNV
Germline

Chr4:148259978

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119740

rs_121912566

1 SubmittersRCV000009095

NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro)

SNV
Germline

Chr4:148081363

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119742

rs_121912567

1 SubmittersRCV000009096

NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter)

SNV
Germline

Chr4:148436373

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119744

rs_121912568

1 SubmittersRCV000009097

NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter)

SNV
Germline

Chr4:148081460

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2

Criteria Provided
Single Submitter

CA119746

rs_121912569

2 SubmittersRCV000009098 RCV002496310

NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter)

SNV
Germline

Chr4:148435553

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119748

rs_121912570

1 SubmittersRCV000009099

NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter)

SNV
Germline

Chr4:148154899

Likely pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

Criteria Provided
Single Submitter

CA119750

rs_121912571

2 SubmittersRCV000009100

NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter)

SNV
Germline

Chr4:148154892

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119752

rs_121912572

1 SubmittersRCV000009101

NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu)

SNV
Germline

Chr4:148152526

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Single Submitter

CA119754

rs_121912573

2 SubmittersRCV000009102 RCV003555981

NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly)

SNV
Germline

Chr4:148081384

Pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA119757

rs_121912574

1 SubmittersRCV000009103

NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)

SNV
Germline

Chr16:23380574

Pathogenic

Liddle syndrome 1
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119956

rs_137852704

6 SubmittersRCV000009378 RCV000713386 RCV002504771

NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)

SNV
Germline

Chr16:23348708

Conflicting classifications of pathogenicity

Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Pseudohypoaldosteronism, type IB2, autosomal recessive
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA119959

rs_137852706

2 SubmittersRCV001120417 RCV001120139 RCV002310627 RCV000009380

NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)

SNV
Germline

Chr16:23367879

Likely pathogenic

Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Single Submitter

CA119964

rs_137852709

2 SubmittersRCV000009386 RCV002496312

NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)

SNV
Germline

Chr16:23348844

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
not specified
Condition: not provided
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
SCNN1B-related disorder

Criteria Provided
Conflicting Classifications

CA119969

rs_35731153

14 SubmittersRCV000009392 RCV000175586 RCV000713389 RCV001120418 RCV001120419 RCV003914823

NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)

SNV
Germline

Chr12:6348981

Pathogenic/Likely pathogenic

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Liddle syndrome 3
Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA120270

rs_137852634

3 SubmittersRCV000009846 RCV002298438 RCV002482850

NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu)

SNV
Germline

Chr12:6348198

Likely pathogenic

Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Single Submitter

CA120272

rs_137852635

2 SubmittersRCV000009849 RCV003162223

NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)

SNV
Germline

Chr16:23375806

Conflicting classifications of pathogenicity

not specified
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183066

rs_2303156

4 SubmittersRCV000155571 RCV000300321 RCV000399158 RCV000355118 RCV003416010

NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)

SNV
Germline

Chr12:6354776

Conflicting classifications of pathogenicity

not specified
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405952

rs_149484264

4 SubmittersRCV000215836 RCV000337981 RCV000280531 RCV002518203 RCV002518202

NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)

SNV
Germline

Chr16:23380584

Conflicting classifications of pathogenicity

not specified
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
SCNN1B-related disorder

Criteria Provided
Conflicting Classifications

CA7960616

rs_140927806

5 SubmittersRCV000220161 RCV000402338 RCV000344774 RCV000305202 RCV000901498 RCV003937856

NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)

SNV
Germline

Chr16:23215094

Conflicting classifications of pathogenicity

not specified
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Condition: not provided
SCNN1G-related disorder

Criteria Provided
Conflicting Classifications

CA7959940

rs_72647541

5 SubmittersRCV000278515 RCV000284257 RCV000341572 RCV000725881 RCV003930124

NM_003590.5(CUL3):c.*2272T>C

SNV
Germline

Chr2:224471973

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612582

rs_556914502

2 SubmittersRCV000380730 RCV001141958 RCV002274986

NM_003590.5(CUL3):c.*2130A>G

SNV
Germline

Chr2:224472115

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided
Pseudohypoaldosteronism type 2E

Criteria Provided
Conflicting Classifications

CA10612590

rs_555995940

2 SubmittersRCV000292532 RCV002274987 RCV001143759

NM_003590.5(CUL3):c.*3665T>A

SNV
Germline

Chr2:224470580

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E

Criteria Provided
Conflicting Classifications

CA10612909

rs_374191606

1 SubmittersRCV000371517 RCV001143652

NM_003590.5(CUL3):c.*89A>T

SNV
Germline

Chr2:224474156

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E

Criteria Provided
Conflicting Classifications

CA10612934

rs_192166927

1 SubmittersRCV000393904 RCV001140228

NM_003590.5(CUL3):c.*3753T>C

SNV
Germline

Chr2:224470492

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E

Criteria Provided
Conflicting Classifications

CA10614351

rs_558805673

1 SubmittersRCV000370481 RCV001143650

NM_003590.5(CUL3):c.*294A>G

SNV
Germline

Chr2:224473951

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614375

rs_532967850

2 SubmittersRCV000371433 RCV001140225 RCV003311765

NM_000901.5(NR3C2):c.739A>T (p.Arg247Trp)

SNV
Germline

Chr4:148436122

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3100414

rs_149902988

2 SubmittersRCV000395090 RCV003736740

NM_017415.3(KLHL3):c.*2360G>A

SNV
Germline

Chr5:137619738

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10619065

rs_533076689

1 SubmittersRCV000356476 RCV001153999

NM_017415.3(KLHL3):c.*1583C>T

SNV
Germline

Chr5:137620515

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10619068

rs_554048189

1 SubmittersRCV000350076 RCV001154858

NM_017415.3(KLHL3):c.*299G>A

SNV
Germline

Chr5:137621799

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10619084

rs_539132895

1 SubmittersRCV000293639 RCV001154113

NM_017415.3(KLHL3):c.1021+5G>A

SNV
Germline

Chr5:137639855

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3422320

rs_183499982

2 SubmittersRCV000366474 RCV001156624 RCV003718222

NM_000901.5(NR3C2):c.2087C>T (p.Pro696Leu)

SNV
Germline

Chr4:148154829

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3100176

rs_368322580

2 SubmittersRCV000262756 RCV004021941

NM_017415.3(KLHL3):c.*4066C>T

SNV
Germline

Chr5:137618032

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10620201

rs_544519958

1 SubmittersRCV000391622 RCV001153902

NM_017415.3(KLHL3):c.*790G>A

SNV
Germline

Chr5:137621308

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10620231

rs_572765305

1 SubmittersRCV000303268 RCV001152838

NM_017415.3(KLHL3):c.*224G>T

SNV
Germline

Chr5:137621874

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10620234

rs_536807069

1 SubmittersRCV000350908 RCV001154114

NM_017415.3(KLHL3):c.*141C>T

SNV
Germline

Chr5:137621957

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10622704

rs_189064290

1 SubmittersRCV000279955 RCV001154117

NM_017415.3(KLHL3):c.756G>A (p.Thr252=)

SNV
Germline

Chr5:137658278

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA3422390

rs_143617205

1 SubmittersRCV000278015 RCV001151153

NM_017415.3(KLHL3):c.-303G>C

SNV
Germline

Chr5:137735949

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10622737

rs_567542768

1 SubmittersRCV000367355 RCV001156727

NM_017415.3(KLHL3):c.*1651C>T

SNV
Germline

Chr5:137620447

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA10622780

rs_577834025

1 SubmittersRCV000292776 RCV001154857

NM_017415.3(KLHL3):c.*39G>A

SNV
Germline

Chr5:137622059

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D

Criteria Provided
Conflicting Classifications

CA3422096

rs_762735618

1 SubmittersRCV000399262 RCV001154119

NM_001038.6(SCNN1A):c.*914A>G

SNV
Germline

Chr12:6346959

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633446

rs_62619209

2 SubmittersRCV000260601 RCV000315805 RCV001785558

NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=)

SNV
Germline

Chr12:6348197

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405734

rs_199526819

2 SubmittersRCV000299120 RCV000397367 RCV002522246

NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)

SNV
Germline

Chr12:6348797

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA6405774

rs_72657550

1 SubmittersRCV000337730 RCV000400458

NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)

SNV
Germline

Chr12:6349177

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405834

rs_148749888

3 SubmittersRCV000328262 RCV000385070 RCV000728158 RCV000949782

NM_001038.6(SCNN1A):c.840C>T (p.Phe280=)

SNV
Germline

Chr12:6362086

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6406097

rs_139335335

2 SubmittersRCV000292539 RCV000375279 RCV000924063

NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)

SNV
Germline

Chr16:23192509

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7959649

rs_72646501

4 SubmittersRCV000341227 RCV000399950 RCV000713394 RCV003479098

NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)

SNV
Germline

Chr16:23215108

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7959943

rs_148985177

6 SubmittersRCV000287850 RCV000379928 RCV001200889 RCV002522828

NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)

SNV
Germline

Chr16:23348845

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA7960092

rs_757137077

1 SubmittersRCV000270676 RCV000310527 RCV000365127

NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)

SNV
Germline

Chr16:23380778

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7960675

rs_776613953

4 SubmittersRCV000297058 RCV000354087 RCV000399722 RCV002522834 RCV002520998

NM_001038.6(SCNN1A):c.*296C>T

SNV
Germline

Chr12:6347577

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10638276

rs_55981728

3 SubmittersRCV000359167 RCV000390258 RCV002285308

NM_001038.6(SCNN1A):c.*113C>T

SNV
Germline

Chr12:6347760

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

CA10638279

rs_62620999

1 SubmittersRCV000260787 RCV000318293

NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=)

SNV
Germline

Chr12:6347948

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405684

rs_370406973

3 SubmittersRCV000289961 RCV000382052 RCV000897396

NM_001038.6(SCNN1A):c.-54-14C>T

SNV
Germline

Chr12:6374851

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA6406349

rs_61758858

1 SubmittersRCV000291929 RCV000339903

NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=)

SNV
Germline

Chr12:6354499

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405920

rs_375712066

3 SubmittersRCV000286272 RCV000378570 RCV001200576

NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly)

SNV
Germline

Chr12:6355342

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405996

rs_569195112

2 SubmittersRCV000350992 RCV000395520 RCV003727659

NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys)

SNV
Germline

Chr12:6362180

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

CA6406118

rs_142409152

1 SubmittersRCV000295692 RCV000343569

NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln)

SNV
Germline

Chr12:6348117

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6405713

rs_775290860

2 SubmittersRCV000286142 RCV000343386 RCV003243065

NM_001038.6(SCNN1A):c.1554-6C>T

SNV
Germline

Chr12:6348808

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA6405777

rs_376456435

1 SubmittersRCV000312025 RCV000369009

NM_001038.6(SCNN1A):c.1497+6G>C

SNV
Germline

Chr12:6349158

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405829

rs_144275086

2 SubmittersRCV000276726 RCV000315468 RCV000961179

NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=)

SNV
Germline

Chr12:6349176

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6405832

rs_3764873

3 SubmittersRCV000270746 RCV000363055 RCV000825085 RCV000898186

NM_001038.6(SCNN1A):c.876-13C>T

SNV
Germline

Chr12:6355893

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6406067

rs_201235216

2 SubmittersRCV000260717 RCV000318224 RCV002520828

NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys)

SNV
Germline

Chr12:6362100

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA6406100

rs_759933475

1 SubmittersRCV000330908 RCV000387793

NM_001039.4(SCNN1G):c.*1370G>A

SNV
Germline

Chr16:23216839

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2

Criteria Provided
Conflicting Classifications

CA10643203

rs_72647550

1 SubmittersRCV000306591 RCV000401574

NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)

SNV
Germline

Chr16:23352917

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960149

rs_199810483

2 SubmittersRCV000278132 RCV000318042 RCV000372576 RCV003736715

NM_000336.3(SCNN1B):c.586-15T>C

SNV
Germline

Chr16:23355284

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA7960198

rs_371098444

1 SubmittersRCV000304551 RCV000345224 RCV000401503

NM_000336.3(SCNN1B):c.1270+11G>T

SNV
Germline

Chr16:23375866

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1

Criteria Provided
Conflicting Classifications

CA7960416

rs_369905217

1 SubmittersRCV000275114 RCV000330301 RCV000366256

NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)

SNV
Germline

Chr16:23380423

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
SCNN1B-related disorder

Criteria Provided
Conflicting Classifications

CA7960580

rs_61759916

6 SubmittersRCV000293600 RCV000352019 RCV000385551 RCV000891159 RCV003922341

NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)

SNV
Germline

Chr16:23380642

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

CA7960632

rs_762486495

2 SubmittersRCV000261497 RCV000353782 RCV000908558 RCV000333082

NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=)

SNV
Germline

Chr16:23213122

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7959879

rs_72647527

2 SubmittersRCV000262450 RCV000373430 RCV000934297

NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)

SNV
Germline

Chr16:23352955

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Condition: not provided
SCNN1B-related disorder

Criteria Provided
Conflicting Classifications

CA7960155

rs_139310448

6 SubmittersRCV000293856 RCV000352207 RCV000388075 RCV001171907 RCV003940245

NM_000336.3(SCNN1B):c.1419C>T (p.His473=)

SNV
Germline

Chr16:23378720

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960509

rs_193211556

2 SubmittersRCV000265772 RCV000305530 RCV000360291 RCV002520995

NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His)

SNV
Germline

Chr16:23380141

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960554

rs_138784278

2 SubmittersRCV000294815 RCV000317498 RCV000372180 RCV002520996

NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=)

SNV
Germline

Chr16:23380591

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960617

rs_758251652

2 SubmittersRCV000262545 RCV000301289 RCV000359654 RCV000920461

NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)

SNV
Germline

Chr16:23380765

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7960670

rs_61759917

4 SubmittersRCV000284147 RCV000336877 RCV000394686 RCV000891576 RCV001289233

NM_001039.4(SCNN1G):c.-23G>A

SNV
Germline

Chr16:23186249

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA7959464

rs_762522517

1 SubmittersRCV000287935 RCV000382328

NM_001039.4(SCNN1G):c.399G>A (p.Glu133=)

SNV
Germline

Chr16:23189452

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2

Criteria Provided
Conflicting Classifications

CA7959565

rs_200985912

1 SubmittersRCV000293883 RCV000348767

NM_001039.4(SCNN1G):c.477G>A (p.Pro159=)

SNV
Germline

Chr16:23189530

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7959583

rs_145602271

2 SubmittersRCV000302328 RCV000407520 RCV003417993

NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp)

SNV
Germline

Chr16:23189591

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7959590

rs_763601481

2 SubmittersRCV000266905 RCV000361738 RCV002508210

NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe)

SNV
Germline

Chr16:23215346

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Condition: not provided
SCNN1G-related disorder

Criteria Provided
Conflicting Classifications

CA7959981

rs_745715995

3 SubmittersRCV000345193 RCV000398385 RCV002522829 RCV003969899

NM_001039.4(SCNN1G):c.*328G>A

SNV
Germline

Chr16:23215797

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA10648096

rs_56153525

1 SubmittersRCV000325546 RCV000382449

NM_001039.4(SCNN1G):c.*1147A>G

SNV
Germline

Chr16:23216616

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2

Criteria Provided
Conflicting Classifications

CA10648102

rs_80081880

1 SubmittersRCV000295220 RCV000333799

NM_000336.3(SCNN1B):c.561C>T (p.His187=)

SNV
Germline

Chr16:23353050

Conflicting classifications of pathogenicity

Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960172

rs_773448523

2 SubmittersRCV000309103 RCV000348803 RCV000395260 RCV003114480

NM_000336.3(SCNN1B):c.1270+14C>T

SNV
Germline

Chr16:23375869

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960418

rs_141909058

2 SubmittersRCV000271759 RCV000326826 RCV000381470 RCV002522833

NM_000336.3(SCNN1B):c.1346+8C>T

SNV
Germline

Chr16:23377248

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960467

rs_200714599

2 SubmittersRCV000278059 RCV000351861 RCV000399676 RCV000916155

NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=)

SNV
Germline

Chr16:23380564

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960606

rs_541449814

3 SubmittersRCV000306294 RCV000346058 RCV000395462 RCV002520997

NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)

SNV
Germline

Chr4:148194809

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
NR3C2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA358428661

rs_1131691921

4 SubmittersRCV000493937 RCV001332610 RCV001535946 RCV004535554

NM_001038.6(SCNN1A):c.875+1G>A

SNV
Germline

Chr12:6362050

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6406085

rs_142439390

3 SubmittersRCV000519225 RCV003227777

NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)

SNV
Germline

Chr16:23214768

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Bronchiectasis with or without elevated sweat chloride 3

Criteria Provided
Conflicting Classifications

CA7959909

rs_144653364

3 SubmittersRCV000519048 RCV000764039

NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter)

SNV
Germline

Chr16:23371805

Likely pathogenic

Autosomal recessive pseudohypoaldosteronism type 1

No Assertion Criteria Provided

CA395109859

rs_1182475940

1 SubmittersRCV000578168

NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)

SNV
Germline

Chr2:224557750

Likely pathogenic

Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553535841

4 SubmittersRCV000677281 RCV000987041 RCV001352922

NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)

SNV
Germline

Chr12:6349331

Conflicting classifications of pathogenicity

Liddle syndrome 3
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 3
Bronchiectasis with or without elevated sweat chloride 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201873521

3 SubmittersRCV000680280 RCV001535947 RCV003546588

NM_001038.6(SCNN1A):c.-55+2T>C

SNV
Germline

Chr12:6375503

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_772498945

3 SubmittersRCV000722903 RCV000779114 RCV001114923

NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)

SNV
Germline

Chr4:148114148

Likely pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

Criteria Provided
Single Submitter

rs_1553986377

1 SubmittersRCV000761320

NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg)

SNV
Germline

Chr4:148114246

Likely pathogenic

Autosomal dominant pseudohypoaldosteronism type 1

Criteria Provided
Single Submitter

rs_1560928649

1 SubmittersRCV000761556

NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter)

SNV
Germline

Chr12:6348112

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_771949339

1 SubmittersRCV000779111 RCV001114825

NM_001038.6(SCNN1A):c.126G>A (p.Thr42=)

SNV
Germline

Chr12:6374658

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_138995556

3 SubmittersRCV000959924 RCV001115037 RCV001115038

NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu)

SNV
Germline

Chr12:6348983

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148959452

3 SubmittersRCV000914391 RCV001109184 RCV001109185 RCV002540873

NM_001038.6(SCNN1A):c.147C>T (p.Ile49=)

SNV
Germline

Chr12:6374637

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_200770604

2 SubmittersRCV000918429 RCV001115036 RCV001115035

NM_001038.6(SCNN1A):c.1439+1G>A

SNV
Unknown

Chr12:6349326

Pathogenic/Likely pathogenic

Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Liddle syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1369791519

2 SubmittersRCV000988776 RCV002497281

NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)

SNV
Germline

Chr16:23213146

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2

Criteria Provided
Conflicting Classifications

rs_146420892

3 SubmittersRCV000996237 RCV001121615 RCV001121616

NM_001038.6(SCNN1A):c.*467C>A

SNV
Germline

Chr12:6347406

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_140681881

1 SubmittersRCV001113336 RCV001113337

NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=)

SNV
Germline

Chr12:6347879

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

rs_539360032

1 SubmittersRCV001111427 RCV001111428

NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)

SNV
Germline

Chr12:6348078

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_751903373

1 SubmittersRCV001113424 RCV001113423

NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg)

SNV
Germline

Chr12:6348082

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2

Criteria Provided
Conflicting Classifications

rs_755287192

1 SubmittersRCV001113425 RCV001113426

NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe)

SNV
Germline

Chr12:6349372

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369382063

2 SubmittersRCV001111518 RCV001113507 RCV004032165

NM_001039.4(SCNN1G):c.132C>T (p.Ile44=)

SNV
Germline

Chr16:23186403

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774767092

2 SubmittersRCV001117993 RCV001117992 RCV003546627

NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser)

SNV
Germline

Chr16:23215380

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139012605

2 SubmittersRCV001118193 RCV001118192 RCV002556514

NM_001039.4(SCNN1G):c.*230C>T

SNV
Germline

Chr16:23215699

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

rs_72647546

1 SubmittersRCV001119743 RCV001119744

NM_001039.4(SCNN1G):c.*491G>A

SNV
Germline

Chr16:23215960

Conflicting classifications of pathogenicity

Liddle syndrome 2
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

rs_146413363

1 SubmittersRCV001116855 RCV001121718

NM_000336.3(SCNN1B):c.6C>T (p.His2=)

SNV
Germline

Chr16:23348605

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
SCNN1B-related disorder

Criteria Provided
Conflicting Classifications

rs_564570566

3 SubmittersRCV001120138 RCV001120136 RCV001120137 RCV002558190 RCV003953497

NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)

SNV
Germline

Chr16:23355330

Conflicting classifications of pathogenicity

Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201279350

2 SubmittersRCV001120527 RCV001120526 RCV001120525 RCV003727871

NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)

SNV
Germline

Chr16:23371336

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

rs_374264520

1 SubmittersRCV001120624 RCV001120623 RCV001120622

NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)

SNV
Germline

Chr16:23371423

Conflicting classifications of pathogenicity

Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_13306633

2 SubmittersRCV001120626 RCV001120627 RCV001120625 RCV002556592

NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)

SNV
Germline

Chr16:23375814

Conflicting classifications of pathogenicity

Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200966246

3 SubmittersRCV001117139 RCV001117137 RCV001117138 RCV002558158 RCV002556487

NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)

SNV
Germline

Chr16:23377358

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201369319

4 SubmittersRCV001115796 RCV001115797 RCV001115795 RCV001786435 RCV002556282

NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=)

SNV
Germline

Chr16:23380438

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

rs_146440372

1 SubmittersRCV001120820 RCV001120821 RCV001120822

NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=)

SNV
Germline

Chr16:23380438

Conflicting classifications of pathogenicity

Liddle syndrome 1
Bronchiectasis with or without elevated sweat chloride 1
Autosomal recessive pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

rs_146440372

1 SubmittersRCV001115887 RCV001115888 RCV001120823

NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln)

SNV
Germline

Chr16:23380572

Conflicting classifications of pathogenicity

Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1

Criteria Provided
Conflicting Classifications

rs_13306627

1 SubmittersRCV001115889 RCV001115890 RCV001115891

NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)

SNV
Germline

Chr16:23380635

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147926991

2 SubmittersRCV001118954 RCV001118953 RCV001118955 RCV002558176

NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)

SNV
Germline

Chr16:23380667

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373718332

2 SubmittersRCV001120924 RCV001120923 RCV001120922 RCV002556598

NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)

SNV
Germline

Chr16:23380668

Conflicting classifications of pathogenicity

Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 1

Criteria Provided
Conflicting Classifications

rs_140945152

1 SubmittersRCV001115998 RCV001115999 RCV001115997

NM_000336.3(SCNN1B):c.1404+7C>T

SNV
Germline

Chr16:23377393

Conflicting classifications of pathogenicity

Bronchiectasis with or without elevated sweat chloride 1
Liddle syndrome 1
Autosomal recessive pseudohypoaldosteronism type 1
Condition: not provided
SCNN1B-related disorder

Criteria Provided
Conflicting Classifications

rs_1485041245

3 SubmittersRCV001117230 RCV001117231 RCV001117229 RCV003546626 RCV003945827

NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu)

SNV
Germline

Chr4:148435481

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149589666

2 SubmittersRCV001150586 RCV002557248

NM_000901.5(NR3C2):c.1272A>G (p.Ser424=)