Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)	SNV Germline	Chr15:89776664	Pathogenic	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340356	rs_71647808	5 SubmittersRCV000005493 RCV000760454
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)	SNV Germline	Chr15:89776730	Pathogenic	Spondylocostal dysostosis 2, autosomal recessive	No Assertion Criteria Provided	CA340358	rs_71647806	2 SubmittersRCV000005494
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)	SNV Germline	Chr15:89777057	Pathogenic	Spondylocostal dysostosis 2, autosomal recessive	No Assertion Criteria Provided	CA340360	rs_118204035	2 SubmittersRCV000005495
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)	SNV Germline	Chr19:39507099	Pathogenic	Spondylocostal dysostosis 1, autosomal recessive	No Assertion Criteria Provided	CA253972	rs_104894674	1 SubmittersRCV000007232
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)	SNV Germline	Chr19:39504130	Pathogenic	Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253975	rs_104894675	4 SubmittersRCV000007235 RCV001558657
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)	SNV Germline	Chr19:39507456	Pathogenic/Likely pathogenic	Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253978	rs_104894676	3 SubmittersRCV000007237 RCV000996922
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)	SNV Germline	Chr7:2525301	Pathogenic	Spondylocostal dysostosis 3, autosomal recessive Spondylocostal dysostosis 2, autosomal recessive	No Assertion Criteria Provided	CA340626	rs_104894024	2 SubmittersRCV000007414 RCV002269818
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	SNV Germline	Chr17:8123096	Pathogenic	Spondylocostal dysostosis 4, autosomal recessive Spondylocostal dysostosis 2, autosomal recessive	No Assertion Criteria Provided	CA129403	rs_113994160	2 SubmittersRCV000034271 RCV002269820
NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)	SNV Germline	Chr17:8121693	Pathogenic	Spondylocostal dysostosis 4, autosomal recessive	No Assertion Criteria Provided	CA129404	rs_387906978	1 SubmittersRCV001807738
NM_001165967.2(HES7):c.172A>G (p.Ile58Val)	SNV Germline	Chr17:8122397	Pathogenic	Spondylocostal dysostosis 4, autosomal recessive	No Assertion Criteria Provided	CA129405	rs_387906979	1 SubmittersRCV001807739
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	SNV Germline	Chr15:89776598	Pathogenic/Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343154	rs_118204034	3 SubmittersRCV000032155 RCV001389330
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)	SNV Germline	Chr16:30086225	Pathogenic	Spondylocostal dysostosis 5 Spondylocostal dysostosis 2, autosomal recessive	No Assertion Criteria Provided	CA150573	rs_587777113	2 SubmittersRCV000087033 RCV002269823
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter)	SNV Germline	Chr16:30086847	Pathogenic	Spondylocostal dysostosis 5	Criteria Provided Single Submitter	CA198670	rs_201620629	2 SubmittersRCV000167862
NM_004608.4(TBX6):c.-49+34G>T	SNV Germline	Chr16:30091839	Conflicting classifications of pathogenicity	not specified Spondylocostal dysostosis 5	Criteria Provided Conflicting Classifications		rs_3809627	2 SubmittersRCV002248717 RCV002244959
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)	SNV Germline	Chr16:30089130	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 5 Scoliosis Condition: not provided	Criteria Provided Conflicting Classifications	CA198674	rs_202193096	3 SubmittersRCV000167866 RCV000855736 RCV001316105
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)	SNV Germline	Chr19:39507081	Pathogenic/Likely pathogenic	Condition: not provided Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA236024	rs_786205519	2 SubmittersRCV000171283 RCV001328972
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)	SNV Germline	Chr6:83854160	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 6, autosomal recessive Condition: not provided Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Conflicting Classifications	CA351422	rs_201419367	8 SubmittersRCV000207268 RCV000275086 RCV002270021
NM_001009994.3(RIPPLY2):c.240-4T>G	SNV Germline	Chr6:83857238	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 6, autosomal recessive Condition: not provided Spondylocostal dysostosis 2, autosomal recessive RIPPLY2-related disorder	Criteria Provided Conflicting Classifications	CA351419	rs_370933531	4 SubmittersRCV000207041 RCV000888795 RCV002270022 RCV003390955
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)	SNV Germline	Chr15:89778097	Conflicting classifications of pathogenicity	not specified Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA7730559	rs_752665246	4 SubmittersRCV000245402 RCV000664884 RCV000932131
NM_203486.3(DLL3):c.153C>T (p.Ser51=)	SNV Germline	Chr19:39499275	Conflicting classifications of pathogenicity	not specified Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA9432121	rs_373980582	4 SubmittersRCV000252425 RCV001130371 RCV001130372 RCV001419787
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)	SNV Germline	Chr15:89776663	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive not specified Condition: not provided MESP2-related disorder	Criteria Provided Conflicting Classifications	CA7730388	rs_77473319	6 SubmittersRCV000309067 RCV000390297 RCV000903908 RCV003957433
NM_001040167.2(LFNG):c.573C>T (p.Ser191=)	SNV Germline	Chr7:2525310	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 3, autosomal recessive	Criteria Provided Conflicting Classifications	CA4127008	rs_139864844	2 SubmittersRCV000354179 RCV001079317
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	SNV Germline	Chr19:39504095	Conflicting classifications of pathogenicity	not specified Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA9432249	rs_145191532	5 SubmittersRCV000363667 RCV001134170 RCV001134171 RCV001518609
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)	SNV Germline	Chr15:89778220	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA7730595	rs_762014488	2 SubmittersRCV000288460 RCV000980383
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)	SNV Germline	Chr15:89776542	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided Inborn genetic diseases MESP2-related disorder	Criteria Provided Conflicting Classifications	CA7730362	rs_566641514	5 SubmittersRCV000348753 RCV000909848 RCV002522810 RCV003920337
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)	SNV Germline	Chr15:89776918	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA7730455	rs_767474985	4 SubmittersRCV000260981 RCV000942222
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)	SNV Germline	Chr15:89776930	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive not specified	Criteria Provided Conflicting Classifications	CA7730457	rs_113097169	5 SubmittersRCV000316442 RCV000455241
NM_001039958.2(MESP2):c.585A>G (p.Gly195=)	SNV Germline	Chr15:89776942	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive MESP2-related disorder	Criteria Provided Conflicting Classifications	CA7730462	rs_113636330	2 SubmittersRCV000389611 RCV003957641
NM_001039958.2(MESP2):c.597A>G (p.Gly199=)	SNV Germline	Chr15:89776954	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA7730465	rs_778503063	2 SubmittersRCV000295228 RCV001487160
NM_203486.3(DLL3):c.939G>A (p.Gly313=)	SNV Germline	Chr19:39505297	Conflicting classifications of pathogenicity	Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided DLL3-related disorder	Criteria Provided Conflicting Classifications	CA9432318	rs_150100958	3 SubmittersRCV000302225 RCV000340792 RCV000902994 RCV003969939
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)	SNV Germline	Chr19:39503026	Pathogenic/Likely pathogenic	Condition: not provided Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA9432222	rs_771875570	3 SubmittersRCV000484500 RCV001782964
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg)	SNV Germline	Chr19:39504223	Conflicting classifications of pathogenicity	Condition: not provided Syndactyly Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Conflicting Classifications	CA9432269	rs_139297205	3 SubmittersRCV000521001 RCV001134172 RCV001134173
NM_001040167.2(LFNG):c.735+9C>T	SNV Germline	Chr7:2525576	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 3, autosomal recessive	Criteria Provided Conflicting Classifications	CA4127083	rs_202171160	2 SubmittersRCV000591938 RCV001088760
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu)	SNV Germline	Chr7:2526884	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 3, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4127261	rs_71647813	3 SubmittersRCV000591962 RCV001469266 RCV002531026
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)	SNV Germline	Chr19:39505340	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 1, autosomal recessive Syndactyly	Criteria Provided Conflicting Classifications	CA9432326	rs_749513254	4 SubmittersRCV000594292 RCV001001026 RCV001128678
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)	SNV Germline	Chr19:39503021	Conflicting classifications of pathogenicity	not specified Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9432219	rs_376905666	6 SubmittersRCV000591976 RCV001130471 RCV001130472 RCV001347460 RCV002532610
NM_203486.3(DLL3):c.1758+57C>T	SNV Germline	Chr19:39507971	Conflicting classifications of pathogenicity	not specified Condition: not provided Spondylocostal dysostosis 1, autosomal recessive Syndactyly DLL3-related disorder	Criteria Provided Conflicting Classifications	CA9432539	rs_147582946	4 SubmittersRCV000611556 RCV000883842 RCV001135895 RCV001135896 RCV003945532
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)	SNV Germline	Chr15:89776368	Pathogenic/Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555439013	3 SubmittersRCV000670586 RCV001385866
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)	SNV Unknown	Chr15:89776943	Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Single Submitter		rs_1555439118	1 SubmittersRCV000673076
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)	SNV Unknown	Chr15:89776405	Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Single Submitter		rs_912110093	1 SubmittersRCV000667887
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)	SNV Unknown	Chr15:89776607	Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Single Submitter		rs_762067626	1 SubmittersRCV000673463
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)	SNV Germline	Chr15:89776586	Pathogenic/Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_538996447	2 SubmittersRCV000666082 RCV001380742
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)	SNV Unknown	Chr15:89777094	Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Single Submitter		rs_1555439152	1 SubmittersRCV000669986
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)	SNV Germline	Chr15:89776473	Pathogenic/Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1206731716	2 SubmittersRCV000671724 RCV001212144
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)	SNV Germline	Chr15:89776706	Pathogenic/Likely pathogenic	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555439063	2 SubmittersRCV000666771 RCV002530694
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)	SNV Unknown	Chr17:8123083	Likely pathogenic	Spondylocostal dysostosis 4, autosomal recessive	Criteria Provided Single Submitter		rs_1332109041	1 SubmittersRCV000677670
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)	SNV Unknown	Chr19:39502939	Likely pathogenic	Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts		rs_1447189148	2 SubmittersRCV000677675
NM_001040167.2(LFNG):c.327G>T (p.Pro109=)	SNV Germline	Chr7:2520188	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 3, autosomal recessive	Criteria Provided Conflicting Classifications		rs_376342763	2 SubmittersRCV000728394 RCV001449422
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn)	SNV Germline	Chr7:2525433	Pathogenic	Spondylocostal dysostosis 3, autosomal recessive	No Assertion Criteria Provided		rs_1211456697	1 SubmittersRCV000758081
NM_004608.4(TBX6):c.356G>A (p.Arg119His)	SNV Germline	Chr16:30089208	Conflicting classifications of pathogenicity	Scoliosis Spondylocostal dysostosis 5 Condition: not provided TBX6-related disorder	Criteria Provided Conflicting Classifications		rs_200175825	4 SubmittersRCV000855734 RCV001280811 RCV002538881 RCV003396491
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)	SNV Germline	Chr15:89776525	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Conflicting Classifications		rs_894593728	3 SubmittersRCV000886881 RCV001120011
NM_203486.3(DLL3):c.1623G>A (p.Pro541=)	SNV Germline	Chr19:39507568	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 1, autosomal recessive Syndactyly	Criteria Provided Conflicting Classifications		rs_200988915	2 SubmittersRCV000882778 RCV001134423 RCV001134424
NM_203486.3(DLL3):c.1123C>T (p.Leu375=)	SNV Germline	Chr19:39507068	Conflicting classifications of pathogenicity	Condition: not provided Syndactyly Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Conflicting Classifications		rs_777253263	2 SubmittersRCV000913682 RCV001134302 RCV001134301
NM_001039958.2(MESP2):c.189C>G (p.Ala63=)	SNV Germline	Chr15:89776546	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 2, autosomal recessive MESP2-related disorder	Criteria Provided Conflicting Classifications		rs_534821207	4 SubmittersRCV000928378 RCV001120012 RCV003960471
NM_203486.3(DLL3):c.352-15C>T	SNV Germline	Chr19:39500600	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_201902809	3 SubmittersRCV001001727 RCV001131086 RCV002068777
NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter)	SNV Germline	Chr16:30086388	Pathogenic	Spondylocostal dysostosis 5	Criteria Provided Single Submitter		rs_369015359	1 SubmittersRCV001254941
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)	SNV Germline	Chr15:89776874	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 2, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374604155	4 SubmittersRCV001048620 RCV001120322 RCV003363074
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=)	SNV Germline	Chr15:89778157	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 2, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_370227491	2 SubmittersRCV001118583 RCV001448042
NM_203486.3(DLL3):c.564G>T (p.Thr188=)	SNV Germline	Chr19:39502969	Conflicting classifications of pathogenicity	Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided DLL3-related disorder	Criteria Provided Conflicting Classifications		rs_767676342	3 SubmittersRCV001135535 RCV001135536 RCV002558291 RCV003945851
NM_203486.3(DLL3):c.615C>T (p.Arg205=)	SNV Germline	Chr19:39503020	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_780088167	2 SubmittersRCV001130470 RCV001130469 RCV001391974
NM_203486.3(DLL3):c.933G>A (p.Val311=)	SNV Germline	Chr19:39505291	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_760420806	2 SubmittersRCV001135672 RCV001135671 RCV003117779
NM_203486.3(DLL3):c.969C>T (p.Asn323=)	SNV Germline	Chr19:39505327	Conflicting classifications of pathogenicity	Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_139638161	2 SubmittersRCV001128676 RCV001128677 RCV002070499
NM_203486.3(DLL3):c.984C>T (p.Val328=)	SNV Germline	Chr19:39505342	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_138378695	3 SubmittersRCV001128680 RCV001128679 RCV003546638
NM_203486.3(DLL3):c.1140C>G (p.Arg380=)	SNV Germline	Chr19:39507085	Conflicting classifications of pathogenicity	Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_934368057	2 SubmittersRCV001134305 RCV001134306 RCV003769261
NM_203486.3(DLL3):c.1302C>T (p.Ala434=)	SNV Germline	Chr19:39507247	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_750457185	2 SubmittersRCV001135782 RCV001135783 RCV002556889
NM_203486.3(DLL3):c.1455C>T (p.Pro485=)	SNV Germline	Chr19:39507400	Conflicting classifications of pathogenicity	Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_759560622	2 SubmittersRCV001131442 RCV001131443 RCV003736995
NM_203486.3(DLL3):c.652+15C>T	SNV Germline	Chr19:39503072	Conflicting classifications of pathogenicity	Syndactyly Spondylocostal dysostosis 1, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_528327447	2 SubmittersRCV001131203 RCV001131202 RCV002070528
NM_203486.3(DLL3):c.1674-9C>T	SNV Germline	Chr19:39507821	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 1, autosomal recessive Syndactyly Condition: not provided	Criteria Provided Conflicting Classifications		rs_2079653502	2 SubmittersRCV001134425 RCV001134426 RCV003669197
NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp)	SNV Germline	Chr7:2526869	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 3, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147110861	4 SubmittersRCV001247728 RCV001796413 RCV002568681
NM_203486.3(DLL3):c.409+6T>C	SNV Germline	Chr19:39500678	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 1, autosomal recessive DLL3-related disorder	Criteria Provided Conflicting Classifications		rs_995675341	3 SubmittersRCV001370554 RCV001286799 RCV003918823
NM_004608.4(TBX6):c.914-2A>C	SNV Germline	Chr16:30086697	Likely pathogenic	Spondylocostal dysostosis 5	Criteria Provided Single Submitter		rs_762321473	1 SubmittersRCV001783853
NM_203486.3(DLL3):c.871-1G>A	SNV Germline	Chr19:39505228	Pathogenic	Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Single Submitter		rs_2144761828	1 SubmittersRCV001806346
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg)	SNV Germline	Chr7:2520229	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 3, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_758997792	2 SubmittersRCV001927448 RCV003167008
NM_203486.3(DLL3):c.915C>T (p.Tyr305=)	SNV Germline	Chr19:39505273	Conflicting classifications of pathogenicity	Condition: not provided Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Conflicting Classifications		rs_372702131	2 SubmittersRCV002124348 RCV003146518
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)	SNV Germline	Chr15:89776440	Pathogenic	Spondylocostal dysostosis 2, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003236476
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)	SNV Germline	Chr19:39507257	Likely pathogenic	Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003314120
NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)	SNV Germline	Chr16:30086227	Likely pathogenic	Spondylocostal dysostosis 5	Criteria Provided Single Submitter			1 SubmittersRCV003986016
NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)	SNV Germline	Chr19:39502879	Likely pathogenic	Spondylocostal dysostosis 1, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003990878
NM_001040167.2(LFNG):c.434C>T (p.Thr145Met)	SNV Germline	Chr7:2524696	Likely pathogenic	Spondylocostal dysostosis 3, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV004515773

NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)

SNV
Germline

Chr15:89776664

Pathogenic

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340356

rs_71647808

5 SubmittersRCV000005493 RCV000760454

NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)

SNV
Germline

Chr15:89776730

Pathogenic

Spondylocostal dysostosis 2, autosomal recessive

No Assertion Criteria Provided

CA340358

rs_71647806

2 SubmittersRCV000005494

NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr15:89777057

Pathogenic

Spondylocostal dysostosis 2, autosomal recessive

No Assertion Criteria Provided

CA340360

rs_118204035

2 SubmittersRCV000005495

NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)

SNV
Germline

Chr19:39507099

Pathogenic

Spondylocostal dysostosis 1, autosomal recessive

No Assertion Criteria Provided

CA253972

rs_104894674

1 SubmittersRCV000007232

NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)

SNV
Germline

Chr19:39504130

Pathogenic

Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253975

rs_104894675

4 SubmittersRCV000007235 RCV001558657

NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)

SNV
Germline

Chr19:39507456

Pathogenic/Likely pathogenic

Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253978

rs_104894676

3 SubmittersRCV000007237 RCV000996922

NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)

SNV
Germline

Chr7:2525301

Pathogenic

Spondylocostal dysostosis 3, autosomal recessive
Spondylocostal dysostosis 2, autosomal recessive

No Assertion Criteria Provided

CA340626

rs_104894024

2 SubmittersRCV000007414 RCV002269818

NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)

SNV
Germline

Chr17:8123096

Pathogenic

Spondylocostal dysostosis 4, autosomal recessive
Spondylocostal dysostosis 2, autosomal recessive

No Assertion Criteria Provided

CA129403

rs_113994160

2 SubmittersRCV000034271 RCV002269820

NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)

SNV
Germline

Chr17:8121693

Pathogenic

Spondylocostal dysostosis 4, autosomal recessive

No Assertion Criteria Provided

CA129404

rs_387906978

1 SubmittersRCV001807738

NM_001165967.2(HES7):c.172A>G (p.Ile58Val)

SNV
Germline

Chr17:8122397

Pathogenic

Spondylocostal dysostosis 4, autosomal recessive

No Assertion Criteria Provided

CA129405

rs_387906979

1 SubmittersRCV001807739

NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)

SNV
Germline

Chr15:89776598

Pathogenic/Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343154

rs_118204034

3 SubmittersRCV000032155 RCV001389330

NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)

SNV
Germline

Chr16:30086225

Pathogenic

Spondylocostal dysostosis 5
Spondylocostal dysostosis 2, autosomal recessive

No Assertion Criteria Provided

CA150573

rs_587777113

2 SubmittersRCV000087033 RCV002269823

NM_004608.4(TBX6):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr16:30086847

Pathogenic

Spondylocostal dysostosis 5

Criteria Provided
Single Submitter

CA198670

rs_201620629

2 SubmittersRCV000167862

NM_004608.4(TBX6):c.-49+34G>T

SNV
Germline

Chr16:30091839

Conflicting classifications of pathogenicity

not specified
Spondylocostal dysostosis 5

Criteria Provided
Conflicting Classifications

rs_3809627

2 SubmittersRCV002248717 RCV002244959

NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)

SNV
Germline

Chr16:30089130

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 5
Scoliosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA198674

rs_202193096

3 SubmittersRCV000167866 RCV000855736 RCV001316105

NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)

SNV
Germline

Chr19:39507081

Pathogenic/Likely pathogenic

Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA236024

rs_786205519

2 SubmittersRCV000171283 RCV001328972

NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)

SNV
Germline

Chr6:83854160

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 6, autosomal recessive
Condition: not provided
Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Conflicting Classifications

CA351422

rs_201419367

8 SubmittersRCV000207268 RCV000275086 RCV002270021

NM_001009994.3(RIPPLY2):c.240-4T>G

SNV
Germline

Chr6:83857238

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 6, autosomal recessive
Condition: not provided
Spondylocostal dysostosis 2, autosomal recessive
RIPPLY2-related disorder

Criteria Provided
Conflicting Classifications

CA351419

rs_370933531

4 SubmittersRCV000207041 RCV000888795 RCV002270022 RCV003390955

NM_001039958.2(MESP2):c.957G>A (p.Ser319=)

SNV
Germline

Chr15:89778097

Conflicting classifications of pathogenicity

not specified
Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7730559

rs_752665246

4 SubmittersRCV000245402 RCV000664884 RCV000932131

NM_203486.3(DLL3):c.153C>T (p.Ser51=)

SNV
Germline

Chr19:39499275

Conflicting classifications of pathogenicity

not specified
Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9432121

rs_373980582

4 SubmittersRCV000252425 RCV001130371 RCV001130372 RCV001419787

NM_001039958.2(MESP2):c.306C>A (p.His102Gln)

SNV
Germline

Chr15:89776663

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
not specified
Condition: not provided
MESP2-related disorder

Criteria Provided
Conflicting Classifications

CA7730388

rs_77473319

6 SubmittersRCV000309067 RCV000390297 RCV000903908 RCV003957433

NM_001040167.2(LFNG):c.573C>T (p.Ser191=)

SNV
Germline

Chr7:2525310

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 3, autosomal recessive

Criteria Provided
Conflicting Classifications

CA4127008

rs_139864844

2 SubmittersRCV000354179 RCV001079317

NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)

SNV
Germline

Chr19:39504095

Conflicting classifications of pathogenicity

not specified
Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9432249

rs_145191532

5 SubmittersRCV000363667 RCV001134170 RCV001134171 RCV001518609

NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)

SNV
Germline

Chr15:89778220

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7730595

rs_762014488

2 SubmittersRCV000288460 RCV000980383

NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)

SNV
Germline

Chr15:89776542

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided
Inborn genetic diseases
MESP2-related disorder

Criteria Provided
Conflicting Classifications

CA7730362

rs_566641514

5 SubmittersRCV000348753 RCV000909848 RCV002522810 RCV003920337

NM_001039958.2(MESP2):c.561G>A (p.Gly187=)

SNV
Germline

Chr15:89776918

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7730455

rs_767474985

4 SubmittersRCV000260981 RCV000942222

NM_001039958.2(MESP2):c.573G>A (p.Gly191=)

SNV
Germline

Chr15:89776930

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
not specified

Criteria Provided
Conflicting Classifications

CA7730457

rs_113097169

5 SubmittersRCV000316442 RCV000455241

NM_001039958.2(MESP2):c.585A>G (p.Gly195=)

SNV
Germline

Chr15:89776942

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
MESP2-related disorder

Criteria Provided
Conflicting Classifications

CA7730462

rs_113636330

2 SubmittersRCV000389611 RCV003957641

NM_001039958.2(MESP2):c.597A>G (p.Gly199=)

SNV
Germline

Chr15:89776954

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7730465

rs_778503063

2 SubmittersRCV000295228 RCV001487160

NM_203486.3(DLL3):c.939G>A (p.Gly313=)

SNV
Germline

Chr19:39505297

Conflicting classifications of pathogenicity

Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided
DLL3-related disorder

Criteria Provided
Conflicting Classifications

CA9432318

rs_150100958

3 SubmittersRCV000302225 RCV000340792 RCV000902994 RCV003969939

NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)

SNV
Germline

Chr19:39503026

Pathogenic/Likely pathogenic

Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA9432222

rs_771875570

3 SubmittersRCV000484500 RCV001782964

NM_203486.3(DLL3):c.805G>A (p.Gly269Arg)

SNV
Germline

Chr19:39504223

Conflicting classifications of pathogenicity

Condition: not provided
Syndactyly
Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Conflicting Classifications

CA9432269

rs_139297205

3 SubmittersRCV000521001 RCV001134172 RCV001134173

NM_001040167.2(LFNG):c.735+9C>T

SNV
Germline

Chr7:2525576

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 3, autosomal recessive

Criteria Provided
Conflicting Classifications

CA4127083

rs_202171160

2 SubmittersRCV000591938 RCV001088760

NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu)

SNV
Germline

Chr7:2526884

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 3, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4127261

rs_71647813

3 SubmittersRCV000591962 RCV001469266 RCV002531026

NM_203486.3(DLL3):c.982G>T (p.Val328Phe)

SNV
Germline

Chr19:39505340

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive
Syndactyly

Criteria Provided
Conflicting Classifications

CA9432326

rs_749513254

4 SubmittersRCV000594292 RCV001001026 RCV001128678

NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)

SNV
Germline

Chr19:39503021

Conflicting classifications of pathogenicity

not specified
Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9432219

rs_376905666

6 SubmittersRCV000591976 RCV001130471 RCV001130472 RCV001347460 RCV002532610

NM_203486.3(DLL3):c.1758+57C>T

SNV
Germline

Chr19:39507971

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
DLL3-related disorder

Criteria Provided
Conflicting Classifications

CA9432539

rs_147582946

4 SubmittersRCV000611556 RCV000883842 RCV001135895 RCV001135896 RCV003945532

NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)

SNV
Germline

Chr15:89776368

Pathogenic/Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555439013

3 SubmittersRCV000670586 RCV001385866

NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)

SNV
Unknown

Chr15:89776943

Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Single Submitter

rs_1555439118

1 SubmittersRCV000673076

NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)

SNV
Unknown

Chr15:89776405

Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Single Submitter

rs_912110093

1 SubmittersRCV000667887

NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)

SNV
Unknown

Chr15:89776607

Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Single Submitter

rs_762067626

1 SubmittersRCV000673463

NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)

SNV
Germline

Chr15:89776586

Pathogenic/Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_538996447

2 SubmittersRCV000666082 RCV001380742

NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)

SNV
Unknown

Chr15:89777094

Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Single Submitter

rs_1555439152

1 SubmittersRCV000669986

NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)

SNV
Germline

Chr15:89776473

Pathogenic/Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1206731716

2 SubmittersRCV000671724 RCV001212144

NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr15:89776706

Pathogenic/Likely pathogenic

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555439063

2 SubmittersRCV000666771 RCV002530694

NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)

SNV
Unknown

Chr17:8123083

Likely pathogenic

Spondylocostal dysostosis 4, autosomal recessive

Criteria Provided
Single Submitter

rs_1332109041

1 SubmittersRCV000677670

NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)

SNV
Unknown

Chr19:39502939

Likely pathogenic

Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1447189148

2 SubmittersRCV000677675

NM_001040167.2(LFNG):c.327G>T (p.Pro109=)

SNV
Germline

Chr7:2520188

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 3, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_376342763

2 SubmittersRCV000728394 RCV001449422

NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn)

SNV
Germline

Chr7:2525433

Pathogenic

Spondylocostal dysostosis 3, autosomal recessive

No Assertion Criteria Provided

rs_1211456697

1 SubmittersRCV000758081

NM_004608.4(TBX6):c.356G>A (p.Arg119His)

SNV
Germline

Chr16:30089208

Conflicting classifications of pathogenicity

Scoliosis
Spondylocostal dysostosis 5
Condition: not provided
TBX6-related disorder

Criteria Provided
Conflicting Classifications

rs_200175825

4 SubmittersRCV000855734 RCV001280811 RCV002538881 RCV003396491

NM_001039958.2(MESP2):c.168T>G (p.Pro56=)

SNV
Germline

Chr15:89776525

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_894593728

3 SubmittersRCV000886881 RCV001120011

NM_203486.3(DLL3):c.1623G>A (p.Pro541=)

SNV
Germline

Chr19:39507568

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive
Syndactyly

Criteria Provided
Conflicting Classifications

rs_200988915

2 SubmittersRCV000882778 RCV001134423 RCV001134424

NM_203486.3(DLL3):c.1123C>T (p.Leu375=)

SNV
Germline

Chr19:39507068

Conflicting classifications of pathogenicity

Condition: not provided
Syndactyly
Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_777253263

2 SubmittersRCV000913682 RCV001134302 RCV001134301

NM_001039958.2(MESP2):c.189C>G (p.Ala63=)

SNV
Germline

Chr15:89776546

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 2, autosomal recessive
MESP2-related disorder

Criteria Provided
Conflicting Classifications

rs_534821207

4 SubmittersRCV000928378 RCV001120012 RCV003960471

NM_203486.3(DLL3):c.352-15C>T

SNV
Germline

Chr19:39500600

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201902809

3 SubmittersRCV001001727 RCV001131086 RCV002068777

NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter)

SNV
Germline

Chr16:30086388

Pathogenic

Spondylocostal dysostosis 5

Criteria Provided
Single Submitter

rs_369015359

1 SubmittersRCV001254941

NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)

SNV
Germline

Chr15:89776874

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 2, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374604155

4 SubmittersRCV001048620 RCV001120322 RCV003363074

NM_001039958.2(MESP2):c.1017C>G (p.Pro339=)

SNV
Germline

Chr15:89778157

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 2, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370227491

2 SubmittersRCV001118583 RCV001448042

NM_203486.3(DLL3):c.564G>T (p.Thr188=)

SNV
Germline

Chr19:39502969

Conflicting classifications of pathogenicity

Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided
DLL3-related disorder

Criteria Provided
Conflicting Classifications

rs_767676342

3 SubmittersRCV001135535 RCV001135536 RCV002558291 RCV003945851

NM_203486.3(DLL3):c.615C>T (p.Arg205=)

SNV
Germline

Chr19:39503020

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780088167

2 SubmittersRCV001130470 RCV001130469 RCV001391974

NM_203486.3(DLL3):c.933G>A (p.Val311=)

SNV
Germline

Chr19:39505291

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760420806

2 SubmittersRCV001135672 RCV001135671 RCV003117779

NM_203486.3(DLL3):c.969C>T (p.Asn323=)

SNV
Germline

Chr19:39505327

Conflicting classifications of pathogenicity

Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139638161

2 SubmittersRCV001128676 RCV001128677 RCV002070499

NM_203486.3(DLL3):c.984C>T (p.Val328=)

SNV
Germline

Chr19:39505342

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138378695

3 SubmittersRCV001128680 RCV001128679 RCV003546638

NM_203486.3(DLL3):c.1140C>G (p.Arg380=)

SNV
Germline

Chr19:39507085

Conflicting classifications of pathogenicity

Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_934368057

2 SubmittersRCV001134305 RCV001134306 RCV003769261

NM_203486.3(DLL3):c.1302C>T (p.Ala434=)

SNV
Germline

Chr19:39507247

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750457185

2 SubmittersRCV001135782 RCV001135783 RCV002556889

NM_203486.3(DLL3):c.1455C>T (p.Pro485=)

SNV
Germline

Chr19:39507400

Conflicting classifications of pathogenicity

Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759560622

2 SubmittersRCV001131442 RCV001131443 RCV003736995

NM_203486.3(DLL3):c.652+15C>T

SNV
Germline

Chr19:39503072

Conflicting classifications of pathogenicity

Syndactyly
Spondylocostal dysostosis 1, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_528327447

2 SubmittersRCV001131203 RCV001131202 RCV002070528

NM_203486.3(DLL3):c.1674-9C>T

SNV
Germline

Chr19:39507821

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 1, autosomal recessive
Syndactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2079653502

2 SubmittersRCV001134425 RCV001134426 RCV003669197

NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp)

SNV
Germline

Chr7:2526869

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 3, autosomal recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147110861

4 SubmittersRCV001247728 RCV001796413 RCV002568681

NM_203486.3(DLL3):c.409+6T>C

SNV
Germline

Chr19:39500678

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive
DLL3-related disorder

Criteria Provided
Conflicting Classifications

rs_995675341

3 SubmittersRCV001370554 RCV001286799 RCV003918823

NM_004608.4(TBX6):c.914-2A>C

SNV
Germline

Chr16:30086697

Likely pathogenic

Spondylocostal dysostosis 5

Criteria Provided
Single Submitter

rs_762321473

1 SubmittersRCV001783853

NM_203486.3(DLL3):c.871-1G>A

SNV
Germline

Chr19:39505228

Pathogenic

Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Single Submitter

rs_2144761828

1 SubmittersRCV001806346

NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg)

SNV
Germline

Chr7:2520229

Conflicting classifications of pathogenicity

Spondylocostal dysostosis 3, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_758997792

2 SubmittersRCV001927448 RCV003167008

NM_203486.3(DLL3):c.915C>T (p.Tyr305=)

SNV
Germline

Chr19:39505273

Conflicting classifications of pathogenicity

Condition: not provided
Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_372702131

2 SubmittersRCV002124348 RCV003146518

NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)

SNV
Germline

Chr15:89776440

Pathogenic

Spondylocostal dysostosis 2, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003236476

NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)

SNV
Germline

Chr19:39507257

Likely pathogenic

Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003314120

NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)

SNV
Germline

Chr16:30086227

Likely pathogenic

Spondylocostal dysostosis 5

Criteria Provided
Single Submitter

1 SubmittersRCV003986016

NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)

SNV
Germline

Chr19:39502879

Likely pathogenic

Spondylocostal dysostosis 1, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003990878

NM_001040167.2(LFNG):c.434C>T (p.Thr145Met)

SNV
Germline

Chr7:2524696

Likely pathogenic

Spondylocostal dysostosis 3, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV004515773