Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	SNV Germline	Chr16:30737370	Pathogenic	Floating-Harbor syndrome Condition: not provided Inborn genetic diseases See cases Neurodevelopmental delay Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Developmental delay SRCAP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342761	rs_199469464	29 SubmittersRCV000023895 RCV000255081 RCV000623916 RCV001420319 RCV002273937 RCV003988823 RCV004798746 RCV003407357
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)	SNV Germline	Chr16:30737343	Pathogenic/Likely pathogenic	Floating-Harbor syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA342763	rs_199469465	24 SubmittersRCV000023896 RCV000299481 RCV001265998
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter)	SNV Germline	Chr16:30736616	Pathogenic	Floating-Harbor syndrome	No Assertion Criteria Provided	CA270632	rs_587777656	1 SubmittersRCV000133554
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)	SNV Germline	Chr16:30738033	Pathogenic/Likely pathogenic	Floating-Harbor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA272646	rs_587784444	2 SubmittersRCV000147668
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)	SNV Germline	Chr16:30723779	Conflicting classifications of pathogenicity	Condition: not provided SRCAP-related disorder Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242554	rs_200175704	4 SubmittersRCV000176568 RCV003907587 RCV002485145 RCV002516709
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)	SNV Germline	Chr16:30704071	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245327	rs_183497403	4 SubmittersRCV000178280 RCV002478591 RCV003298224
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg)	SNV Germline	Chr16:30738540	Conflicting classifications of pathogenicity	Floating-Harbor syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8012713	rs_146421389	5 SubmittersRCV000334801 RCV001850689 RCV002521008
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)	SNV Germline	Chr16:30711953	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8011038	rs_771334638	3 SubmittersRCV001872521 RCV002548715 RCV002506902
NM_006662.3(SRCAP):c.4940C>T (p.Pro1647Leu)	SNV Germline	Chr16:30724364	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8011861	rs_200403976	4 SubmittersRCV002522842 RCV005016704 RCV000592924
NM_006662.3(SRCAP):c.9122G>A (p.Arg3041Gln)	SNV Germline	Chr16:30739162	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8012834	rs_139814474	3 SubmittersRCV002603550 RCV005021607 RCV005281339
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala)	SNV Germline	Chr16:30738495	Conflicting classifications of pathogenicity	not specified Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8012698	rs_779992354	3 SubmittersRCV000503306 RCV005010438 RCV001857169
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	SNV Germline	Chr16:30736601	Pathogenic/Likely pathogenic	Condition: not provided Floating-Harbor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA395630020	rs_1555465891	4 SubmittersRCV000657907 RCV001775944
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)	SNV Germline	Chr16:30723190	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8011670	rs_777744269	5 SubmittersRCV000734861 RCV002499383
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp)	SNV Germline	Chr16:30721227	Conflicting classifications of pathogenicity	not specified Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Condition: not provided	Criteria Provided Conflicting Classifications	CA8011461	rs_556230791	3 SubmittersRCV000736101 RCV002493372 RCV005056499
NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter)	SNV Germline	Chr16:30737327	Pathogenic	Floating-Harbor syndrome	Criteria Provided Single Submitter	CA395632499	rs_758972811	1 SubmittersRCV000850607
NM_006662.3(SRCAP):c.7968C>T (p.Pro2656=)	SNV Germline	Chr16:30738008	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8012587	rs_773890896	2 SubmittersRCV000907891 RCV005012392
NM_006662.3(SRCAP):c.843C>T (p.Arg281=)	SNV Germline	Chr16:30709722	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8010766	rs_139542422	3 SubmittersRCV000920941 RCV005012395
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)	SNV Germline	Chr16:30722256	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8011535	rs_201583296	5 SubmittersRCV000943436 RCV002488021
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu)	SNV Germline	Chr16:30738033	Conflicting classifications of pathogenicity	Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA395635418	rs_587784444	2 SubmittersRCV001262634 RCV004035399
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)	SNV Germline	Chr16:30737259	Pathogenic	Floating-Harbor syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA395632367	rs_2506726269	3 SubmittersRCV001270394 RCV003235529 RCV004967936
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)	SNV Germline	Chr16:30737229	Pathogenic	Floating-Harbor syndrome	No Assertion Criteria Provided	CA395632305	rs_2053169420	1 SubmittersRCV001293700
NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter)	SNV Germline	Chr16:30739269	Likely pathogenic	Floating-Harbor syndrome	Criteria Provided Single Submitter	CA395643721	rs_143133981	1 SubmittersRCV002464465
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)	SNV Germline	Chr16:30725036	Conflicting classifications of pathogenicity	Floating-Harbor syndrome Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8012023	rs_375163006	4 SubmittersRCV001839196 RCV002542827 RCV005014686 RCV005493094
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)	SNV Germline	Chr16:30738445	Conflicting classifications of pathogenicity	not specified Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8012688	rs_376510159	3 SubmittersRCV001844633 RCV002034730 RCV002489899
NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser)	SNV Germline	Chr16:30724147	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8011812	rs_143556666	2 SubmittersRCV001867245 RCV002503389
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)	SNV Germline	Chr16:30724012	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280513332	rs_181190579	3 SubmittersRCV001880370 RCV002489969 RCV002545842
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)	SNV Germline	Chr16:30721189	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8011452	rs_200083101	3 SubmittersRCV001864293 RCV002482494 RCV003164102
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)	SNV Germline	Chr16:30716310	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases SRCAP-related disorder	Criteria Provided Conflicting Classifications	CA8011276	rs_139524110	4 SubmittersRCV001968001 RCV002479535 RCV002562800 RCV003948835
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)	SNV Germline	Chr16:30724942	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8011995	rs_531238169	4 SubmittersRCV001981698 RCV002497831 RCV003355692 RCV005238096
NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln)	SNV Germline	Chr16:30729495	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8012135	rs_754274438	2 SubmittersRCV002017277 RCV002498011
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val)	SNV Germline	Chr16:30739537	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8012938	rs_530672259	3 SubmittersRCV001884920 RCV002478286 RCV004041538
NM_006662.3(SRCAP):c.2819G>A (p.Arg940Gln)	SNV Germline	Chr16:30720163	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8011329	rs_571228447	3 SubmittersRCV001909937 RCV005016812
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)	SNV Germline	Chr16:30720775	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8011397	rs_767714019	3 SubmittersRCV002050625 RCV002482413 RCV002543493
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp)	SNV Germline	Chr16:30729014	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012070	rs_74015039	3 SubmittersRCV001985207 RCV004043733 RCV002484749
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)	SNV Germline	Chr16:30739029	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8012810	rs_138111804	5 SubmittersRCV001914639 RCV002482617 RCV004041134
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)	SNV Germline	Chr16:30737904	Pathogenic	Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Single Submitter	CA395634880	rs_2151300418	1 SubmittersRCV002204553
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met)	SNV Germline	Chr16:30723967	Conflicting classifications of pathogenicity	not specified Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA395616176	rs_1246765240	2 SubmittersRCV002246848 RCV005017163
NM_006662.3(SRCAP):c.8963C>T (p.Thr2988Ile)	SNV Germline	Chr16:30739003	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8012803	rs_369907818	3 SubmittersRCV003058767 RCV005010922 RCV004963371
NM_006662.3(SRCAP):c.6940C>T (p.Arg2314Cys)	SNV Germline	Chr16:30736556	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012376	rs_745546363	3 SubmittersRCV002619383 RCV004068919 RCV005021594
NM_006662.3(SRCAP):c.7765G>A (p.Ala2589Thr)	SNV Germline	Chr16:30737805	Conflicting classifications of pathogenicity	Condition: not provided SRCAP-related disorder Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012550	rs_370775352	4 SubmittersRCV003117284 RCV003900956 RCV005495519 RCV005011226
NM_006662.3(SRCAP):c.4772C>T (p.Ala1591Val)	SNV Germline	Chr16:30724196	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8011819	rs_769281819	3 SubmittersRCV002574818 RCV005019227 RCV005495341
NM_006662.3(SRCAP):c.1165C>T (p.Arg389Cys)	SNV Germline	Chr16:30710784	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities not specified	Criteria Provided Conflicting Classifications	CA8010897	rs_376370021	4 SubmittersRCV002570938 RCV004965904 RCV005019237 RCV005058894
NM_006662.3(SRCAP):c.8320G>T (p.Ala2774Ser)	SNV Germline	Chr16:30738360	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012661	rs_770691974	2 SubmittersRCV002623067 RCV005019302
NM_006662.3(SRCAP):c.6005G>A (p.Arg2002His)	SNV Germline	Chr16:30729450	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012126	rs_769837716	2 SubmittersRCV002770490 RCV005019383
NM_006662.3(SRCAP):c.9664A>G (p.Ser3222Gly)	SNV Germline	Chr16:30739704	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities SRCAP-related disorder	Criteria Provided Conflicting Classifications	CA8012975	rs_778843215	3 SubmittersRCV002963323 RCV005019522 RCV004744517
NM_006662.3(SRCAP):c.1531C>T (p.His511Tyr)	SNV Germline	Chr16:30711873	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA280506054	rs_991155397	3 SubmittersRCV002742959 RCV003720665 RCV005021684
NM_006662.3(SRCAP):c.7286G>A (p.Cys2429Tyr)	SNV Germline	Chr16:30737326	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012454	rs_370353071	2 SubmittersRCV002719268 RCV005021682
NM_006662.3(SRCAP):c.977G>T (p.Arg326Leu)	SNV Germline	Chr16:30709971	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA395602550	rs_778738758	2 SubmittersRCV002768301 RCV005011124
NM_006662.3(SRCAP):c.1313G>A (p.Arg438Gln)	SNV Germline	Chr16:30711083	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA395603310	rs_1356891310	2 SubmittersRCV002860982 RCV005021714
NM_006662.3(SRCAP):c.1135-2A>G	SNV Germline	Chr16:30710752	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8010888	rs_149689808	3 SubmittersRCV003138828 RCV005011245
NM_006662.3(SRCAP):c.224G>C (p.Ser75Thr)	SNV Germline	Chr16:30704233	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8010616	rs_751863851	3 SubmittersRCV003266285 RCV005102603 RCV005021889
NM_006662.3(SRCAP):c.1507C>T (p.Arg503Trp)	SNV Germline	Chr16:30711849	Conflicting classifications of pathogenicity	Condition: not provided not specified Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8011022	rs_142287264	3 SubmittersRCV003552558 RCV005419644 RCV005022013
NM_006662.3(SRCAP):c.5068A>G (p.Thr1690Ala)	SNV Germline	Chr16:30724492	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8011895	rs_749939097	3 SubmittersRCV003665840 RCV005626838 RCV005013073
NM_006662.3(SRCAP):c.2877G>A (p.Glu959=)	SNV Germline	Chr16:30720221	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA494670401	rs_1937748622	2 SubmittersRCV003686285 RCV005014848
NM_006662.3(SRCAP):c.9566G>A (p.Arg3189Gln)	SNV Germline	Chr16:30739606	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA8012953	rs_748575974	3 SubmittersRCV005495619 RCV003717353 RCV005014891
NM_006662.3(SRCAP):c.1139A>C (p.Lys380Thr)	SNV Germline	Chr16:30710758	Conflicting classifications of pathogenicity	Condition: not provided not specified Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8010890	rs_748559430	4 SubmittersRCV003721617 RCV005435266 RCV005014885
NM_006662.3(SRCAP):c.6925-19C>G	SNV Germline	Chr16:30736522	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA2575971362	rs_752621886	2 SubmittersRCV003829520 RCV005013222
NM_006662.3(SRCAP):c.8209C>A (p.Arg2737=)	SNV Germline	Chr16:30738249	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8012641	rs_770652502	2 SubmittersRCV003822121 RCV005013223
NM_006662.3(SRCAP):c.9052C>T (p.Arg3018Trp)	SNV Germline	Chr16:30739092	Conflicting classifications of pathogenicity	Condition: not provided Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Criteria Provided Conflicting Classifications	CA280525406	rs_867520754	2 SubmittersRCV003846216 RCV005015035
NM_006662.3(SRCAP):c.5024C>T (p.Pro1675Leu)	SNV Germline	Chr16:30724448	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8011883	rs_376226977	2 SubmittersRCV003878547 RCV005013263
NM_006662.3(SRCAP):c.5491G>A (p.Ala1831Thr)	SNV Germline	Chr16:30724915	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications	CA8011987	rs_372712109	2 SubmittersRCV003886152 RCV005006323
NM_006662.3(SRCAP):c.955C>T (p.Arg319Cys)	SNV Germline	Chr16:30709949	Conflicting classifications of pathogenicity	Floating-Harbor syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA280504398	rs_868706745	2 SubmittersRCV003990891 RCV005103171
NM_006662.3(SRCAP):c.78C>T (p.Gly26=)	SNV Germline	Chr16:30704087	Conflicting classifications of pathogenicity	Condition: not provided Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005112615 RCV005022328
NM_006662.3(SRCAP):c.7428T>G (p.Ile2476Met)	SNV Germline	Chr16:30737468	Conflicting classifications of pathogenicity	Floating-Harbor syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV005022400 RCV005112621 RCV005283559
NM_006662.3(SRCAP):c.7557T>A (p.Cys2519Ter)	SNV Germline	Chr16:30737597	Likely pathogenic	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Floating-Harbor syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005022404
NM_006662.3(SRCAP):c.7727C>G (p.Ser2576Ter)	SNV Germline	Chr16:30737767	Likely pathogenic	Floating-Harbor syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005623250

NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)

SNV
Germline

Chr16:30737370

Pathogenic

Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases
See cases
Neurodevelopmental delay
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Developmental delay
SRCAP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342761

rs_199469464

29 SubmittersRCV000023895 RCV000255081 RCV000623916 RCV001420319 RCV002273937 RCV003988823 RCV004798746 RCV003407357

NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)

SNV
Germline

Chr16:30737343

Pathogenic/Likely pathogenic

Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA342763

rs_199469465

24 SubmittersRCV000023896 RCV000299481 RCV001265998

NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter)

SNV
Germline

Chr16:30736616

Pathogenic

Floating-Harbor syndrome

No Assertion Criteria Provided

CA270632

rs_587777656

1 SubmittersRCV000133554

NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)

SNV
Germline

Chr16:30738033

Pathogenic/Likely pathogenic

Floating-Harbor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA272646

rs_587784444

2 SubmittersRCV000147668

NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)

SNV
Germline

Chr16:30723779

Conflicting classifications of pathogenicity

Condition: not provided
SRCAP-related disorder
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242554

rs_200175704

4 SubmittersRCV000176568 RCV003907587 RCV002485145 RCV002516709

NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)

SNV
Germline

Chr16:30704071

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245327

rs_183497403

4 SubmittersRCV000178280 RCV002478591 RCV003298224

NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg)

SNV
Germline

Chr16:30738540

Conflicting classifications of pathogenicity

Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8012713

rs_146421389

5 SubmittersRCV000334801 RCV001850689 RCV002521008

NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)

SNV
Germline

Chr16:30711953

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8011038

rs_771334638

3 SubmittersRCV001872521 RCV002548715 RCV002506902

NM_006662.3(SRCAP):c.4940C>T (p.Pro1647Leu)

SNV
Germline

Chr16:30724364

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8011861

rs_200403976

4 SubmittersRCV002522842 RCV005016704 RCV000592924

NM_006662.3(SRCAP):c.9122G>A (p.Arg3041Gln)

SNV
Germline

Chr16:30739162

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8012834

rs_139814474

3 SubmittersRCV002603550 RCV005021607 RCV005281339

NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala)

SNV
Germline

Chr16:30738495

Conflicting classifications of pathogenicity

not specified
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8012698

rs_779992354

3 SubmittersRCV000503306 RCV005010438 RCV001857169

NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)

SNV
Germline

Chr16:30736601

Pathogenic/Likely pathogenic

Condition: not provided
Floating-Harbor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395630020

rs_1555465891

4 SubmittersRCV000657907 RCV001775944

NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)

SNV
Germline

Chr16:30723190

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8011670

rs_777744269

5 SubmittersRCV000734861 RCV002499383

NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp)

SNV
Germline

Chr16:30721227

Conflicting classifications of pathogenicity

not specified
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8011461

rs_556230791

3 SubmittersRCV000736101 RCV002493372 RCV005056499

NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter)

SNV
Germline

Chr16:30737327

Pathogenic

Floating-Harbor syndrome

Criteria Provided
Single Submitter

CA395632499

rs_758972811

1 SubmittersRCV000850607

NM_006662.3(SRCAP):c.7968C>T (p.Pro2656=)

SNV
Germline

Chr16:30738008

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8012587

rs_773890896

2 SubmittersRCV000907891 RCV005012392

NM_006662.3(SRCAP):c.843C>T (p.Arg281=)

SNV
Germline

Chr16:30709722

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8010766

rs_139542422

3 SubmittersRCV000920941 RCV005012395

NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)

SNV
Germline

Chr16:30722256

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8011535

rs_201583296

5 SubmittersRCV000943436 RCV002488021

NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu)

SNV
Germline

Chr16:30738033

Conflicting classifications of pathogenicity

Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA395635418

rs_587784444

2 SubmittersRCV001262634 RCV004035399

NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)

SNV
Germline

Chr16:30737259

Pathogenic

Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA395632367

rs_2506726269

3 SubmittersRCV001270394 RCV003235529 RCV004967936

NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)

SNV
Germline

Chr16:30737229

Pathogenic

Floating-Harbor syndrome

No Assertion Criteria Provided

CA395632305

rs_2053169420

1 SubmittersRCV001293700

NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter)

SNV
Germline

Chr16:30739269

Likely pathogenic

Floating-Harbor syndrome

Criteria Provided
Single Submitter

CA395643721

rs_143133981

1 SubmittersRCV002464465

NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)

SNV
Germline

Chr16:30725036

Conflicting classifications of pathogenicity

Floating-Harbor syndrome
Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8012023

rs_375163006

4 SubmittersRCV001839196 RCV002542827 RCV005014686 RCV005493094

NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)

SNV
Germline

Chr16:30738445

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8012688

rs_376510159

3 SubmittersRCV001844633 RCV002034730 RCV002489899

NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser)

SNV
Germline

Chr16:30724147

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8011812

rs_143556666

2 SubmittersRCV001867245 RCV002503389

NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)

SNV
Germline

Chr16:30724012

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280513332

rs_181190579

3 SubmittersRCV001880370 RCV002489969 RCV002545842

NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)

SNV
Germline

Chr16:30721189

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8011452

rs_200083101

3 SubmittersRCV001864293 RCV002482494 RCV003164102

NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)

SNV
Germline

Chr16:30716310

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases
SRCAP-related disorder

Criteria Provided
Conflicting Classifications

CA8011276

rs_139524110

4 SubmittersRCV001968001 RCV002479535 RCV002562800 RCV003948835

NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)

SNV
Germline

Chr16:30724942

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8011995

rs_531238169

4 SubmittersRCV001981698 RCV002497831 RCV003355692 RCV005238096

NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln)

SNV
Germline

Chr16:30729495

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8012135

rs_754274438

2 SubmittersRCV002017277 RCV002498011

NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val)

SNV
Germline

Chr16:30739537

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8012938

rs_530672259

3 SubmittersRCV001884920 RCV002478286 RCV004041538

NM_006662.3(SRCAP):c.2819G>A (p.Arg940Gln)

SNV
Germline

Chr16:30720163

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8011329

rs_571228447

3 SubmittersRCV001909937 RCV005016812

NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)

SNV
Germline

Chr16:30720775

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8011397

rs_767714019

3 SubmittersRCV002050625 RCV002482413 RCV002543493

NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp)

SNV
Germline

Chr16:30729014

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012070

rs_74015039

3 SubmittersRCV001985207 RCV004043733 RCV002484749

NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)

SNV
Germline

Chr16:30739029

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8012810

rs_138111804

5 SubmittersRCV001914639 RCV002482617 RCV004041134

NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)

SNV
Germline

Chr16:30737904

Pathogenic

Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Single Submitter

CA395634880

rs_2151300418

1 SubmittersRCV002204553

NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met)

SNV
Germline

Chr16:30723967

Conflicting classifications of pathogenicity

not specified
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA395616176

rs_1246765240

2 SubmittersRCV002246848 RCV005017163

NM_006662.3(SRCAP):c.8963C>T (p.Thr2988Ile)

SNV
Germline

Chr16:30739003

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8012803

rs_369907818

3 SubmittersRCV003058767 RCV005010922 RCV004963371

NM_006662.3(SRCAP):c.6940C>T (p.Arg2314Cys)

SNV
Germline

Chr16:30736556

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012376

rs_745546363

3 SubmittersRCV002619383 RCV004068919 RCV005021594

NM_006662.3(SRCAP):c.7765G>A (p.Ala2589Thr)

SNV
Germline

Chr16:30737805

Conflicting classifications of pathogenicity

Condition: not provided
SRCAP-related disorder
Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012550

rs_370775352

4 SubmittersRCV003117284 RCV003900956 RCV005495519 RCV005011226

NM_006662.3(SRCAP):c.4772C>T (p.Ala1591Val)

SNV
Germline

Chr16:30724196

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8011819

rs_769281819

3 SubmittersRCV002574818 RCV005019227 RCV005495341

NM_006662.3(SRCAP):c.1165C>T (p.Arg389Cys)

SNV
Germline

Chr16:30710784

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
not specified

Criteria Provided
Conflicting Classifications

CA8010897

rs_376370021

4 SubmittersRCV002570938 RCV004965904 RCV005019237 RCV005058894

NM_006662.3(SRCAP):c.8320G>T (p.Ala2774Ser)

SNV
Germline

Chr16:30738360

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012661

rs_770691974

2 SubmittersRCV002623067 RCV005019302

NM_006662.3(SRCAP):c.6005G>A (p.Arg2002His)

SNV
Germline

Chr16:30729450

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012126

rs_769837716

2 SubmittersRCV002770490 RCV005019383

NM_006662.3(SRCAP):c.9664A>G (p.Ser3222Gly)

SNV
Germline

Chr16:30739704

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
SRCAP-related disorder

Criteria Provided
Conflicting Classifications

CA8012975

rs_778843215

3 SubmittersRCV002963323 RCV005019522 RCV004744517

NM_006662.3(SRCAP):c.1531C>T (p.His511Tyr)

SNV
Germline

Chr16:30711873

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA280506054

rs_991155397

3 SubmittersRCV002742959 RCV003720665 RCV005021684

NM_006662.3(SRCAP):c.7286G>A (p.Cys2429Tyr)

SNV
Germline

Chr16:30737326

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012454

rs_370353071

2 SubmittersRCV002719268 RCV005021682

NM_006662.3(SRCAP):c.977G>T (p.Arg326Leu)

SNV
Germline

Chr16:30709971

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA395602550

rs_778738758

2 SubmittersRCV002768301 RCV005011124

NM_006662.3(SRCAP):c.1313G>A (p.Arg438Gln)

SNV
Germline

Chr16:30711083

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA395603310

rs_1356891310

2 SubmittersRCV002860982 RCV005021714

NM_006662.3(SRCAP):c.1135-2A>G

SNV
Germline

Chr16:30710752

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8010888

rs_149689808

3 SubmittersRCV003138828 RCV005011245

NM_006662.3(SRCAP):c.224G>C (p.Ser75Thr)

SNV
Germline

Chr16:30704233

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8010616

rs_751863851

3 SubmittersRCV003266285 RCV005102603 RCV005021889

NM_006662.3(SRCAP):c.1507C>T (p.Arg503Trp)

SNV
Germline

Chr16:30711849

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8011022

rs_142287264

3 SubmittersRCV003552558 RCV005419644 RCV005022013

NM_006662.3(SRCAP):c.5068A>G (p.Thr1690Ala)

SNV
Germline

Chr16:30724492

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8011895

rs_749939097

3 SubmittersRCV003665840 RCV005626838 RCV005013073

NM_006662.3(SRCAP):c.2877G>A (p.Glu959=)

SNV
Germline

Chr16:30720221

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA494670401

rs_1937748622

2 SubmittersRCV003686285 RCV005014848

NM_006662.3(SRCAP):c.9566G>A (p.Arg3189Gln)

SNV
Germline

Chr16:30739606

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA8012953

rs_748575974

3 SubmittersRCV005495619 RCV003717353 RCV005014891

NM_006662.3(SRCAP):c.1139A>C (p.Lys380Thr)

SNV
Germline

Chr16:30710758

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8010890

rs_748559430

4 SubmittersRCV003721617 RCV005435266 RCV005014885

NM_006662.3(SRCAP):c.6925-19C>G

SNV
Germline

Chr16:30736522

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA2575971362

rs_752621886

2 SubmittersRCV003829520 RCV005013222

NM_006662.3(SRCAP):c.8209C>A (p.Arg2737=)

SNV
Germline

Chr16:30738249

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8012641

rs_770652502

2 SubmittersRCV003822121 RCV005013223

NM_006662.3(SRCAP):c.9052C>T (p.Arg3018Trp)

SNV
Germline

Chr16:30739092

Conflicting classifications of pathogenicity

Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Criteria Provided
Conflicting Classifications

CA280525406

rs_867520754

2 SubmittersRCV003846216 RCV005015035

NM_006662.3(SRCAP):c.5024C>T (p.Pro1675Leu)

SNV
Germline

Chr16:30724448

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8011883

rs_376226977

2 SubmittersRCV003878547 RCV005013263

NM_006662.3(SRCAP):c.5491G>A (p.Ala1831Thr)

SNV
Germline

Chr16:30724915

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

CA8011987

rs_372712109

2 SubmittersRCV003886152 RCV005006323

NM_006662.3(SRCAP):c.955C>T (p.Arg319Cys)

SNV
Germline

Chr16:30709949

Conflicting classifications of pathogenicity

Floating-Harbor syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280504398

rs_868706745

2 SubmittersRCV003990891 RCV005103171

NM_006662.3(SRCAP):c.78C>T (p.Gly26=)

SNV
Germline

Chr16:30704087

Conflicting classifications of pathogenicity

Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005112615 RCV005022328

NM_006662.3(SRCAP):c.7428T>G (p.Ile2476Met)

SNV
Germline

Chr16:30737468

Conflicting classifications of pathogenicity

Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005022400 RCV005112621 RCV005283559

NM_006662.3(SRCAP):c.7557T>A (p.Cys2519Ter)

SNV
Germline

Chr16:30737597

Likely pathogenic

Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005022404

NM_006662.3(SRCAP):c.7727C>G (p.Ser2576Ter)

SNV
Germline

Chr16:30737767

Likely pathogenic

Floating-Harbor syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623250