Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	SNV Germline	Chr3:15645451	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided BTD-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278009	rs_104893688	23 SubmittersRCV000001974 RCV000185809 RCV004751190 RCV004601086
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	SNV Germline	Chr3:15645468	Pathogenic	Biotinidase deficiency Condition: not provided Inborn genetic diseases BTD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220320	rs_80338686	18 SubmittersRCV000001975 RCV000790794 RCV003242960 RCV003421895
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	SNV Germline	Chr3:15635479	Pathogenic/Likely pathogenic	Biotinidase deficiency BTD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278010	rs_119103232	10 SubmittersRCV000001976 RCV004751191
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	SNV Germline	Chr3:15645186	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided Inborn genetic diseases BTD-related disorder Optic neuropathy Possible mitochondrial disorder - nuclear genes	Criteria Provided Conflicting Classifications	CA090886	rs_13078881	55 SubmittersRCV000001977 RCV000078064 RCV002381235 RCV004751192 RCV006455045 RCV005646835
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	SNV Germline	Chr3:15644611	Pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278012	rs_28934601	8 SubmittersRCV000001978 RCV000445043
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	SNV Germline	Chr3:15645224	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided Intellectual disability Inborn genetic diseases BTD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA285304	rs_80338685	32 SubmittersRCV000001979 RCV000078065 RCV001251700 RCV004018539 RCV004751193
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	SNV Germline	Chr3:15645322	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA278014	rs_104893692	5 SubmittersRCV000001980 RCV002272006 RCV003230341
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	SNV Germline	Chr3:15645063	Conflicting classifications of pathogenicity; other	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA312373	rs_104893686	9 SubmittersRCV000501861 RCV000727665
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	SNV Germline	Chr3:15635614	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278016	rs_104893687	10 SubmittersRCV000001982 RCV001815158
NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter)	SNV Unknown	Chr3:15645013	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter		rs_397514401	1 SubmittersRCV004575471
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	SNV Germline	Chr3:15635512	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified Condition: not provided BTD-related disorder	Criteria Provided Conflicting Classifications	CA241269	rs_34885143	14 SubmittersRCV000021888 RCV000185799 RCV000724323 RCV003974849
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	SNV Germline	Chr3:15645127	Pathogenic/Likely pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278318	rs_397514335	7 SubmittersRCV002214276 RCV003475304
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)	SNV Germline	Chr3:15635515	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278146	rs_397514336	2 SubmittersRCV003474466
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)	SNV Germline	Chr3:15635550	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278148	rs_397514339	2 SubmittersRCV003474461
NM_001370658.1(BTD):c.134A>G (p.His45Arg)	SNV Germline	Chr3:15635573	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter		rs_397514341	1 SubmittersRCV005198251
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	SNV Germline	Chr3:15635624	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA278170	rs_397507171	6 SubmittersRCV000021907 RCV001171830 RCV001800312
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)	SNV Germline	Chr3:15635627	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278175	rs_397514347	2 SubmittersRCV000021909
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)	SNV Unknown	Chr3:15635641	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278177	rs_151071780	1 SubmittersRCV003474470
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	SNV Germline	Chr3:15635657	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278179	rs_397514348	7 SubmittersRCV000021911 RCV004584595
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)	SNV Germline	Chr3:15635677	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278181	rs_397514350	2 SubmittersRCV002651644
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	SNV Germline	Chr3:15641932	Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278187	rs_397514352	3 SubmittersRCV000021916 RCV000759006
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)	SNV Germline	Chr3:15641932	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278189	rs_397514352	2 SubmittersRCV003499922
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	SNV Germline	Chr3:15641939	Pathogenic	Biotinidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278191	rs_375712490	9 SubmittersRCV000021918 RCV000759007 RCV002513162
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	SNV Germline	Chr3:15641962	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA278195	rs_397514354	4 SubmittersRCV000021920 RCV000755882 RCV005237401
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	SNV Germline	Chr3:15641980	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA278197	rs_397514355	2 SubmittersRCV003474459
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	SNV Germline	Chr3:15642022	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided Inborn genetic diseases BTD-related disorder	Criteria Provided Conflicting Classifications	CA278199	rs_397514357	7 SubmittersRCV000021923 RCV000438885 RCV001266904 RCV003904859
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	SNV Germline	Chr3:15642041	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA278201	rs_367902696	8 SubmittersRCV000021924 RCV000490188 RCV003226165 RCV002513163
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	SNV Germline	Chr3:15642043	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278206	rs_397514359	3 SubmittersRCV000021926 RCV004700264
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	SNV Germline	Chr3:15642057	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278210	rs_397514360	6 SubmittersRCV000021928 RCV000425369
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	SNV Germline	Chr3:15644322	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278213	rs_397514362	4 SubmittersRCV000021930
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	SNV Germline	Chr3:15644325	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278215	rs_397514363	6 SubmittersRCV000021931 RCV000414201
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	SNV Germline	Chr3:15644341	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278217	rs_397514364	5 SubmittersRCV000021934
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	SNV Germline	Chr3:15644367	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA285305	rs_13073139	25 SubmittersRCV000031859 RCV000078073 RCV002514126
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	SNV Germline	Chr3:15644384	Pathogenic	Biotinidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220325	rs_397514367	12 SubmittersRCV000021938 RCV000078074 RCV000623242
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	SNV Germline	Chr3:15644413	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220327	rs_397514369	11 SubmittersRCV000021940 RCV000790752
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)	SNV Germline	Chr3:15644439	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278225	rs_397514370	6 SubmittersRCV000021942 RCV000727575
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)	SNV Germline	Chr3:15644440	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278227	rs_397514371	1 SubmittersRCV002664294
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	SNV Germline	Chr3:15644451	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided BTD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278235	rs_397514375	13 SubmittersRCV000021947 RCV000985649 RCV003415728
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	SNV Germline	Chr3:15644461	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA278237	rs_397514376	5 SubmittersRCV002966879
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	SNV Germline	Chr3:15644487	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA278241	rs_372844636	8 SubmittersRCV000021950 RCV000508413
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	SNV Germline	Chr3:15644488	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided BTD-related disorder	Criteria Provided Conflicting Classifications	CA220331	rs_112195009	8 SubmittersRCV000021951 RCV000078077 RCV004751220
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	SNV Germline	Chr3:15644497	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA278395	rs_397514377	11 SubmittersRCV000032022 RCV000520641
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	SNV Germline	Chr3:15644499	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278243	rs_190386869	6 SubmittersRCV000021953
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	SNV Germline	Chr3:15644510	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278247	rs_397514379	3 SubmittersRCV003474454
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	SNV Germline	Chr3:15644538	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA278249	rs_397514380	5 SubmittersRCV000185805 RCV003473119
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	SNV Germline	Chr3:15644565	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278250	rs_397514381	3 SubmittersRCV000021958
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	SNV Germline	Chr3:15644599	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278254	rs_397514382	7 SubmittersRCV000021960 RCV001284605
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	SNV Germline	Chr3:15644613	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278256	rs_397514383	5 SubmittersRCV000021961
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	SNV Germline	Chr3:15644620	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278258	rs_397514384	6 SubmittersRCV000021962
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	SNV Germline	Chr3:15644670	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278262	rs_397514387	3 SubmittersRCV000021965
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)	SNV Germline	Chr3:15644688	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278264	rs_397514388	2 SubmittersRCV000021966
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	SNV Germline	Chr3:15644689	Pathogenic/Likely pathogenic	Biotinidase deficiency Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA278266	rs_397514389	6 SubmittersRCV000021967 RCV001251702
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)	SNV Germline	Chr3:15644743	Conflicting classifications of pathogenicity	Condition: not provided not specified Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA278272	rs_397514391	3 SubmittersRCV001310478 RCV003323364 RCV003497832
NM_001370658.1(BTD):c.836C>T (p.Ala279Val)	SNV Germline	Chr3:15644752	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278274	rs_397514392	2 SubmittersRCV003499927 RCV005407184
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)	SNV Germline	Chr3:15644785	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278276	rs_397514393	1 SubmittersRCV003499928
NM_001370658.1(BTD):c.872G>A (p.Ser291Asn)	SNV Germline	Chr3:15644788	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_397514394	2 SubmittersRCV005139558
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)	SNV Germline	Chr3:15644790	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278283	rs_397514396	2 SubmittersRCV000021976
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)	SNV Germline	Chr3:15644791	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278285	rs_377651057	3 SubmittersRCV000021977 RCV004700265
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	SNV Germline	Chr3:15645190	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278330	rs_397514402	6 SubmittersRCV000022007 RCV000985644
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)	SNV Germline	Chr3:15645070	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278302	rs_397514406	2 SubmittersRCV002651648
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	SNV Germline	Chr3:15645108	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278305	rs_397514408	5 SubmittersRCV000021994
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	SNV Germline	Chr3:15645109	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278309	rs_397514410	5 SubmittersRCV000021996
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	SNV Germline	Chr3:15645123	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278312	rs_397514412	7 SubmittersRCV000021998 RCV002477004
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	SNV Germline	Chr3:15645127	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278316	rs_397514335	3 SubmittersRCV000022000 RCV000493447
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)	SNV Germline	Chr3:15645169	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278324	rs_397514415	1 SubmittersRCV002651649
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	SNV Germline	Chr3:15645170	Pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278326	rs_397514416	5 SubmittersRCV000022005 RCV002281043
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)	SNV Germline	Chr3:15645195	Pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278332	rs_397514418	5 SubmittersRCV000022008 RCV006263635
NM_001370658.1(BTD):c.1309G>A (p.Val437Met)	SNV Germline	Chr3:15645225	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278335	rs_146600671	1 SubmittersRCV002651650
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)	SNV Germline	Chr3:15645244	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278338	rs_397514421	2 SubmittersRCV000022012
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	SNV Germline	Chr3:15645288	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278340	rs_181396238	4 SubmittersRCV000022014 RCV000484254
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	SNV Germline	Chr3:15645311	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278342	rs_201604102	8 SubmittersRCV000022015 RCV002477005 RCV002513165
NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)	SNV Germline	Chr3:15645315	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278344	rs_397514422	3 SubmittersRCV000434827 RCV005089295 RCV006268084
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	SNV Germline	Chr3:15645345	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220317	rs_138818907	15 SubmittersRCV000022019 RCV000078068
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	SNV Germline	Chr3:15645387	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA278352	rs_397514427	4 SubmittersRCV000022022
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)	SNV Germline	Chr3:15645466	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278354	rs_397514428	1 SubmittersRCV003499930
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	SNV Germline	Chr3:15645469	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278356	rs_397514429	7 SubmittersRCV000022024 RCV004589521
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)	SNV Germline	Chr3:15645475	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278359	rs_397514431	3 SubmittersRCV000022026
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	SNV Germline	Chr3:15645485	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220321	rs_146136265	10 SubmittersRCV000022028 RCV000078071
NM_001370658.1(BTD):c.604G>C (p.Asp202His)	SNV Germline	Chr3:15644520	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA278366	rs_200337373	1 SubmittersRCV003499923
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)	SNV Germline	Chr3:15644857	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278368	rs_397514433	2 SubmittersRCV002651647 RCV005406616
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	SNV Germline	Chr3:15645288	Conflicting classifications of pathogenicity	Biotinidase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA278372	rs_181396238	8 SubmittersRCV000022034 RCV001266891 RCV003476902
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	SNV Germline	Chr3:15644485	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278239	rs_397507174	4 SubmittersRCV000021949 RCV000724129
NM_001370658.1(BTD):c.499C>T (p.Pro167Ser)	SNV Germline	Chr3:15644415	Conflicting classifications of pathogenicity	not specified Biotinidase deficiency	Criteria Provided Conflicting Classifications		rs_397507173	3 SubmittersRCV004699969 RCV005023650
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	SNV Germline	Chr3:15644824	Conflicting classifications of pathogenicity	Biotinidase deficiency Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA220339	rs_397507176	16 SubmittersRCV000021978 RCV000622271 RCV000723564 RCV002298452
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	SNV Germline	Chr3:15644590	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278252	rs_397507175	6 SubmittersRCV000021959 RCV000724643
NM_001370658.1(BTD):c.410G>A (p.Arg137His)	SNV Germline	Chr3:15644326	Pathogenic	Biotinidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220323	rs_146015592	13 SubmittersRCV000021904 RCV000078072 RCV005532573
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	SNV Germline	Chr3:15635563	Pathogenic/Likely pathogenic	Biotinidase deficiency Colon adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA278152	rs_397507170	8 SubmittersRCV000021895 RCV005888842
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)	SNV Germline	Chr3:15644721	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA081769	rs_397514334	1 SubmittersRCV001975221
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	SNV Germline	Chr3:15635615	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278166	rs_397514343	7 SubmittersRCV000021905 RCV003125847
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	SNV Germline	Chr3:15635507	Conflicting classifications of pathogenicity	Biotinidase deficiency Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA278364	rs_146011150	7 SubmittersRCV000022030 RCV001251701 RCV002513289
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	SNV Germline	Chr3:15635591	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278161	rs_397514333	6 SubmittersRCV000021900 RCV000427971
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	SNV Germline	Chr3:15645014	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278383	rs_397514434	3 SubmittersRCV000032015
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)	SNV Germline	Chr3:15635571	Pathogenic	Biotinidase deficiency not specified	Criteria Provided Multiple Submitters No Conflicts	CA278386	rs_397514436	2 SubmittersRCV000032017 RCV000506513
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)	SNV Germline	Chr3:15644614	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278390	rs_397514438	2 SubmittersRCV003499925
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	SNV Germline	Chr3:15645093	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA278392	rs_374141881	5 SubmittersRCV000032020 RCV003480039
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	SNV Germline	Chr3:15644482	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided BTD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220329	rs_398123139	12 SubmittersRCV000144058 RCV000507456 RCV003905037
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	SNV Germline	Chr3:15635636	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA278433	rs_587783002	4 SubmittersRCV000144056 RCV003323415
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	SNV Germline	Chr3:15642053	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA278435	rs_587783003	3 SubmittersRCV000144057 RCV000985647
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	SNV Germline	Chr3:15644557	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278439	rs_587783005	8 SubmittersRCV000144060
NM_001370658.1(BTD):c.838A>C (p.Asn280His)	SNV Germline	Chr3:15644754	Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Single Submitter	CA278441	rs_587783006	2 SubmittersRCV000144061 RCV000494587
NM_001370658.1(BTD):c.339G>A (p.Pro113=)	SNV Germline	Chr3:15641997	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA243087	rs_181743799	3 SubmittersRCV000176974 RCV000714993
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)	SNV Germline	Chr3:15645331	Conflicting classifications of pathogenicity	BTD-related disorder Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA312371	rs_1553654190	2 SubmittersRCV003414156 RCV003497997
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	SNV Germline	Chr3:15645468	Pathogenic/Likely pathogenic	Biotinidase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA312375	rs_80338686	7 SubmittersRCV000409281 RCV000623390
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	SNV Germline	Chr3:15635640	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2277271	rs_147057169	7 SubmittersRCV000633685 RCV000726430
NM_001370658.1(BTD):c.-148C>T	SNV Germline	Chr3:15601763	Pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Single Submitter	CA2277149	rs_774964227	2 SubmittersRCV000380207 RCV001354666
NM_001370658.1(BTD):c.-17+1G>A	SNV Germline	Chr3:15601895	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA16040905	rs_1057516440	4 SubmittersRCV000409752
NM_001370658.1(BTD):c.-17+1G>C	SNV Unknown	Chr3:15601895	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA16040906	rs_1057516440	1 SubmittersRCV000410337
NM_001370658.1(BTD):c.-17+1G>T	SNV Unknown	Chr3:15601895	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA16040907	rs_1057516440	1 SubmittersRCV000411884
NM_001370658.1(BTD):c.249+1G>T	SNV Germline	Chr3:15635689	Likely pathogenic	Biotinidase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA2277279	rs_373249212	4 SubmittersRCV000409760 RCV005532636
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)	SNV Germline	Chr3:15644985	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA16040911	rs_1057516252	2 SubmittersRCV000410177
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	SNV Germline	Chr3:15642040	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA2277309	rs_137877018	4 SubmittersRCV000414058 RCV000675064
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)	SNV Germline	Chr3:15644520	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency not specified Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2277359	rs_200337373	7 SubmittersRCV000420327 RCV000675128 RCV001731677 RCV001251699 RCV004022351
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	SNV Germline	Chr3:15635641	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency Inborn genetic diseases BTD-related disorder	Criteria Provided Conflicting Classifications	CA2277272	rs_151071780	9 SubmittersRCV000755884 RCV000876680 RCV002521735 RCV003912709
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	SNV Germline	Chr3:15644722	Pathogenic/Likely pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16604827	rs_1057520533	5 SubmittersRCV000428786 RCV000675056
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)	SNV Germline	Chr3:15645162	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA2277452	rs_749460715	3 SubmittersRCV000483848 RCV000675109
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)	SNV Germline	Chr3:15645249	Likely pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Single Submitter	CA2277467	rs_746099217	2 SubmittersRCV000483575 RCV000675116
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)	SNV Germline	Chr3:15641929	Conflicting classifications of pathogenicity	not specified Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA351605101	rs_1553653070	2 SubmittersRCV000507334 RCV001348854
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	SNV Germline	Chr3:15644751	Pathogenic/Likely pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351607446	rs_1157567876	5 SubmittersRCV000508475 RCV000715008
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)	SNV Germline	Chr3:15645459	Conflicting classifications of pathogenicity	not specified Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA351962544	rs_771537277	2 SubmittersRCV000505981 RCV001309054
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)	SNV Germline	Chr3:15645469	Conflicting classifications of pathogenicity	not specified Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA351962560	rs_397514429	2 SubmittersRCV000506930 RCV001315219
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	SNV Germline	Chr3:15644481	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA2277351	rs_369102875	11 SubmittersRCV000537387 RCV001591206 RCV002527692
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	SNV Germline	Chr3:15645217	Pathogenic/Likely pathogenic	Biotinidase deficiency Condition: not provided BTD-related disorder Possible mitochondrial disorder - nuclear genes	Criteria Provided Multiple Submitters No Conflicts	CA2277463	rs_397514345	12 SubmittersRCV000524591 RCV001578266 RCV004751584 RCV005859346
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)	SNV Germline	Chr3:15645452	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency BTD-related disorder	Criteria Provided Conflicting Classifications	CA2277499	rs_774052068	4 SubmittersRCV000597261 RCV000801863 RCV003962699
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)	SNV Germline	Chr3:15635678	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351604172	rs_1553652171	3 SubmittersRCV000673777 RCV003117479
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	SNV Germline	Chr3:15641914	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351605034	rs_1553653062	3 SubmittersRCV000669656
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	SNV Germline	Chr3:15642018	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351605672	rs_1306944669	3 SubmittersRCV000672734
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	SNV Germline	Chr3:15644941	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA2277419	rs_747548016	2 SubmittersRCV000665777
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	SNV Germline	Chr3:15644982	Likely pathogenic	Biotinidase deficiency Condition: not provided	Criteria Provided Single Submitter	CA351608129	rs_760612966	2 SubmittersRCV000667458 RCV003456422
NM_001370658.1(BTD):c.*159G>A	SNV Germline	Chr3:15645647	Pathogenic/Likely pathogenic	Biotinidase deficiency BTD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA70623461	rs_530872564	5 SubmittersRCV000671749 RCV003945702
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)	SNV Germline	Chr3:15645225	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351608653	rs_146600671	3 SubmittersRCV000665732 RCV006265182
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	SNV Germline	Chr3:15645295	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency BTD-related disorder	Criteria Provided Conflicting Classifications	CA2277476	rs_558477960	8 SubmittersRCV001355022 RCV000664856 RCV004751654
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)	SNV Unknown	Chr3:15645316	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA351608938	rs_1277029090	1 SubmittersRCV000672288
NM_001370658.1(BTD):c.250-1G>T	SNV Unknown	Chr3:15641907	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA351605014	rs_1553653053	1 SubmittersRCV000666795
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)	SNV Germline	Chr3:15645190	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351608570	rs_397514402	2 SubmittersRCV000672281
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)	SNV Germline	Chr3:15644335	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2277336	rs_745343884	2 SubmittersRCV000693060
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	SNV Germline	Chr3:15644438	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351606482	rs_750363004	3 SubmittersRCV000714997
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)	SNV Germline	Chr3:15644626	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351607167	rs_1190721481	2 SubmittersRCV003499926 RCV004801364
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	SNV Germline	Chr3:15644671	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA70622203	rs_148031701	2 SubmittersRCV003155628
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)	SNV Unknown	Chr3:15645382	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351962383	rs_1559601041	1 SubmittersRCV003474468
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)	SNV Germline	Chr3:15645484	Conflicting classifications of pathogenicity	not specified Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA70623352	rs_1050035768	3 SubmittersRCV003230963 RCV003475551
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	SNV Germline	Chr3:15645303	Pathogenic/Likely pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351608885	rs_1559600871	3 SubmittersRCV000755883 RCV001065482
NM_001370658.1(BTD):c.1278T>C (p.Leu426=)	SNV Germline	Chr3:15645194	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA432819431	rs_1559600608	2 SubmittersRCV000759003 RCV006464149
NM_001370658.1(BTD):c.400-2A>G	SNV Germline	Chr3:15644314	Likely pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA70621386	rs_904882409	2 SubmittersRCV000759008 RCV006464150
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	SNV Germline	Chr3:15645484	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA351962593	rs_1050035768	3 SubmittersRCV000985098
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)	SNV Germline	Chr3:15641923	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA2277295	rs_372416959	4 SubmittersRCV000985645 RCV003769290 RCV005408115
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	SNV Germline	Chr3:15641920	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA70619149	rs_976185636	3 SubmittersRCV000987130 RCV001844252
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)	SNV Germline	Chr3:15644412	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA70621546	rs_955385869	2 SubmittersRCV000987131
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)	SNV Unknown	Chr3:15644621	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351607143	rs_1575029719	1 SubmittersRCV000987132
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)	SNV Unknown	Chr3:15645381	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351962379	rs_1344607767	1 SubmittersRCV000987134
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)	SNV Germline	Chr3:15645175	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA351608540	rs_1575031012	2 SubmittersRCV000998009 RCV003444022
NM_001370658.1(BTD):c.249+1G>A	SNV Unknown	Chr3:15635689	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA2277278	rs_373249212	1 SubmittersRCV001195863
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)	SNV Germline	Chr3:15644937	Pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA351608028	rs_1204990361	1 SubmittersRCV001251432
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)	SNV Germline	Chr3:15645457	Pathogenic	Biotinidase deficiency	No Assertion Criteria Provided	CA351962542	rs_1210441433	1 SubmittersRCV001251433
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	SNV Germline	Chr3:15645459	Conflicting classifications of pathogenicity	Condition: not provided Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA2277502	rs_771537277	4 SubmittersRCV001284604 RCV001871662
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)	SNV Germline	Chr3:15644412	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606362	rs_955385869	1 SubmittersRCV001299844
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)	SNV Germline	Chr3:15644598	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351607039	rs_398123140	1 SubmittersRCV001301669
NM_001370658.1(BTD):c.249+5G>T	SNV Germline	Chr3:15635693	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA1347641422	rs_2065329555	2 SubmittersRCV001316905
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)	SNV Germline	Chr3:15644667	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2277381	rs_144575084	2 SubmittersRCV001327642 RCV001800982
NM_001370658.1(BTD):c.-17+2T>C	SNV Germline	Chr3:15601896	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2277187	rs_745648160	5 SubmittersRCV001379913
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)	SNV Germline	Chr3:15642017	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351605664	rs_2125486425	3 SubmittersRCV001381017
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)	SNV Germline	Chr3:15644332	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA2277335	rs_144717999	5 SubmittersRCV001619776
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro)	SNV Germline	Chr3:15644340	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606186	rs_2125500236	1 SubmittersRCV001845039
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)	SNV Germline	Chr3:15645187	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351608564	rs_2065662435	1 SubmittersRCV001904240
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)	SNV Germline	Chr3:15644432	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA2277342	rs_766476582	2 SubmittersRCV001928662
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)	SNV Germline	Chr3:15644504	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606752	rs_2065635815	1 SubmittersRCV001916129
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	SNV Germline	Chr3:15641978	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2277301	rs_575787457	4 SubmittersRCV001977408 RCV005623464
NM_001370658.1(BTD):c.400-10T>G	SNV Germline	Chr3:15644306	Conflicting classifications of pathogenicity	Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA2277329	rs_750494564	2 SubmittersRCV002125892
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)	SNV Germline	Chr3:15644591	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351607003	rs_767518580	1 SubmittersRCV002466297
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)	SNV Germline	Chr3:15644466	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606608	rs_2471510851	2 SubmittersRCV002281633
NM_001370658.1(BTD):c.249+2C>G	SNV Germline	Chr3:15635690	Pathogenic	Condition: not provided Biotinidase deficiency	Criteria Provided Single Submitter	CA351604235	rs_2471443659	2 SubmittersRCV002293082 RCV005416042
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)	SNV Unknown	Chr3:15635659	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351604070	rs_2065328619	1 SubmittersRCV002310397
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)	SNV Germline	Chr3:15645216	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA2277462	rs_200507575	1 SubmittersRCV003061466
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)	SNV Germline	Chr3:15644335	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA70621447	rs_745343884	3 SubmittersRCV002664293
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)	SNV Germline	Chr3:15645172	Pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351608535	rs_779141922	3 SubmittersRCV002664295
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)	SNV Germline	Chr3:15642004	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351605583	rs_2471489744	1 SubmittersRCV002586446
NM_001370658.1(BTD):c.399+2T>G	SNV Germline	Chr3:15642059	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351605899	rs_2471491093	1 SubmittersRCV002870804
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)	SNV Germline	Chr3:15635487	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351602822	rs_201823743	1 SubmittersRCV002943555
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)	SNV Germline	Chr3:15645262	Conflicting classifications of pathogenicity	Inborn genetic diseases Biotinidase deficiency	Criteria Provided Conflicting Classifications	CA2277471	rs_369316343	2 SubmittersRCV002963063 RCV002963062
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)	SNV Unknown	Chr3:15645268	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351608802	rs_773350924	1 SubmittersRCV003233062
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)	SNV Unknown	Chr3:15644382	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606278	rs_2471509696	1 SubmittersRCV003474457
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)	SNV Germline	Chr3:15644862	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351607733	rs_1303877451	4 SubmittersRCV003474462
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)	SNV Germline	Chr3:15645322	Pathogenic/Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351608966	rs_104893692	2 SubmittersRCV003474464
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)	SNV Germline	Chr3:15635498	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA351602844	rs_2471439603	3 SubmittersRCV003486506
NM_001370658.1(BTD):c.229G>A (p.Val77Met)	SNV Germline	Chr3:15635668	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351604118	rs_1559592900	1 SubmittersRCV003499921
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)	SNV Germline	Chr3:15644587	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606988	rs_2471512475	1 SubmittersRCV003499924
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)	SNV Germline	Chr3:15645053	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351608292	rs_2471518320	2 SubmittersRCV003499929 RCV004526995
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)	SNV Germline	Chr3:15645168	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351608527	rs_1279500513	2 SubmittersRCV003497656 RCV005407193
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)	SNV Germline	Chr3:15644335	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351606173	rs_745343884	1 SubmittersRCV003600609
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)	SNV Germline	Chr3:15644791	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351607526	rs_377651057	1 SubmittersRCV003600684
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)	SNV Germline	Chr3:15642022	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351605708	rs_397514357	2 SubmittersRCV003602127 RCV005419678
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)	SNV Germline	Chr3:15644556	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications	CA351606862	rs_2471511997	2 SubmittersRCV003602392 RCV006454460
NM_001370658.1(BTD):c.881A>T (p.His294Leu)	SNV Germline	Chr3:15644797	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA351607539	rs_1553653888	1 SubmittersRCV003600057
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)	SNV Germline	Chr3:15635564	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter	CA2277257	rs_780281959	1 SubmittersRCV003601990
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)	SNV Germline	Chr3:15641911	Conflicting classifications of pathogenicity	Biotinidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA351605022	rs_1385213836	2 SubmittersRCV003879243 RCV005628995
NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)	SNV Unknown	Chr3:15644822	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter		rs_746332288	1 SubmittersRCV004575473
NM_001370658.1(BTD):c.1280A>G (p.His427Arg)	SNV Germline	Chr3:15645196	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004783550
NM_001370658.1(BTD):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:15635442	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005035052
NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter)	SNV Germline	Chr3:15644486	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005031310
NM_001370658.1(BTD):c.782C>T (p.Ala261Val)	SNV Germline	Chr3:15644698	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005031311
NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)	SNV Germline	Chr3:15645186	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005031315
NM_001370658.1(BTD):c.250-1G>A	SNV Germline	Chr3:15641907	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005117303
NM_001370658.1(BTD):c.311C>T (p.Ser104Phe)	SNV Germline	Chr3:15641969	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005169207
NM_001370658.1(BTD):c.845A>G (p.His282Arg)	SNV Germline	Chr3:15644761	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005202430
NM_001370658.1(BTD):c.190G>A (p.Glu64Lys)	SNV Unknown	Chr3:15635629	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005232600
NM_001370658.1(BTD):c.1167G>A (p.Trp389Ter)	SNV Germline	Chr3:15645083	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005413391
NM_001370658.1(BTD):c.1215T>A (p.Tyr405Ter)	SNV Germline	Chr3:15645131	Pathogenic	Biotinidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005416057
NM_001370658.1(BTD):c.1243A>T (p.Lys415Ter)	SNV Germline	Chr3:15645159	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005416058
NM_001370658.1(BTD):c.250-2A>G	SNV Germline	Chr3:15641906	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005416059
NM_001370658.1(BTD):c.-16-2A>C	SNV Germline	Chr3:15635422	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005416061
NM_001370658.1(BTD):c.763C>T (p.Gln255Ter)	SNV Germline	Chr3:15644679	Likely pathogenic	Biotinidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005416064
NM_001370658.1(BTD):c.404T>C (p.Leu135Pro)	SNV Germline	Chr3:15644320	Likely pathogenic	Biotinidase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005431245
NM_001370658.1(BTD):c.1360G>T (p.Glu454Ter)	SNV Germline	Chr3:15645276	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005631507
NM_001370658.1(BTD):c.289G>T (p.Gly97Ter)	SNV Germline	Chr3:15641947	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005636226
NM_001370658.1(BTD):c.582C>A (p.Asn194Lys)	SNV Germline	Chr3:15644498	Conflicting classifications of pathogenicity	Biotinidase deficiency not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV006613752 RCV006248536
NM_001370658.1(BTD):c.1471C>T (p.Gln491Ter)	SNV Germline	Chr3:15645387	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006258095
NM_001370658.1(BTD):c.466A>G (p.Lys156Glu)	SNV Germline	Chr3:15644382	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006478207
NM_001370658.1(BTD):c.158C>T (p.Pro53Leu)	SNV Germline	Chr3:15635597	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006499564
NM_001370658.1(BTD):c.575A>T (p.Lys192Ile)	SNV Germline	Chr3:15644491	Pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006493594
NM_001370658.1(BTD):c.184G>A (p.Ala62Thr)	SNV Germline	Chr3:15635623	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006540462
NM_001370658.1(BTD):c.641C>A (p.Thr214Asn)	SNV Germline	Chr3:15644557	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006540463
NM_001370658.1(BTD):c.1430C>T (p.Pro477Leu)	SNV Germline	Chr3:15645346	Likely pathogenic	Biotinidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006570317

NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)

SNV
Germline

Chr3:15645451

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
BTD-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278009

rs_104893688

23 SubmittersRCV000001974 RCV000185809 RCV004751190 RCV004601086

NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)

SNV
Germline

Chr3:15645468

Pathogenic

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220320

rs_80338686

18 SubmittersRCV000001975 RCV000790794 RCV003242960 RCV003421895

NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)

SNV
Germline

Chr3:15635479

Pathogenic/Likely pathogenic

Biotinidase deficiency
BTD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278010

rs_119103232

10 SubmittersRCV000001976 RCV004751191

NM_001370658.1(BTD):c.1270G>C (p.Asp424His)

SNV
Germline

Chr3:15645186

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder
Optic neuropathy
Possible mitochondrial disorder - nuclear genes

Criteria Provided
Conflicting Classifications

CA090886

rs_13078881

55 SubmittersRCV000001977 RCV000078064 RCV002381235 RCV004751192 RCV006455045 RCV005646835

NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)

SNV
Germline

Chr3:15644611

Pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278012

rs_28934601

8 SubmittersRCV000001978 RCV000445043

NM_001370658.1(BTD):c.1308A>C (p.Gln436His)

SNV
Germline

Chr3:15645224

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
Intellectual disability
Inborn genetic diseases
BTD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA285304

rs_80338685

32 SubmittersRCV000001979 RCV000078065 RCV001251700 RCV004018539 RCV004751193

NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)

SNV
Germline

Chr3:15645322

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA278014

rs_104893692

5 SubmittersRCV000001980 RCV002272006 RCV003230341

NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)

SNV
Germline

Chr3:15645063

Conflicting classifications of pathogenicity; other

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312373

rs_104893686

9 SubmittersRCV000501861 RCV000727665

NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)

SNV
Germline

Chr3:15635614

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278016

rs_104893687

10 SubmittersRCV000001982 RCV001815158

NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter)

SNV
Unknown

Chr3:15645013

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

rs_397514401

1 SubmittersRCV004575471

NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)

SNV
Germline

Chr3:15635512

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified
Condition: not provided
BTD-related disorder

Criteria Provided
Conflicting Classifications

CA241269

rs_34885143

14 SubmittersRCV000021888 RCV000185799 RCV000724323 RCV003974849

NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)

SNV
Germline

Chr3:15645127

Pathogenic/Likely pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278318

rs_397514335

7 SubmittersRCV002214276 RCV003475304

NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)

SNV
Germline

Chr3:15635515

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278146

rs_397514336

2 SubmittersRCV003474466

NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)

SNV
Germline

Chr3:15635550

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278148

rs_397514339

2 SubmittersRCV003474461

NM_001370658.1(BTD):c.134A>G (p.His45Arg)

SNV
Germline

Chr3:15635573

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

rs_397514341

1 SubmittersRCV005198251

NM_001370658.1(BTD):c.185C>T (p.Ala62Val)

SNV
Germline

Chr3:15635624

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA278170

rs_397507171

6 SubmittersRCV000021907 RCV001171830 RCV001800312

NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)

SNV
Germline

Chr3:15635627

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278175

rs_397514347

2 SubmittersRCV000021909

NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)

SNV
Unknown

Chr3:15635641

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278177

rs_151071780

1 SubmittersRCV003474470

NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)

SNV
Germline

Chr3:15635657

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278179

rs_397514348

7 SubmittersRCV000021911 RCV004584595

NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)

SNV
Germline

Chr3:15635677

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278181

rs_397514350

2 SubmittersRCV002651644

NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)

SNV
Germline

Chr3:15641932

Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278187

rs_397514352

3 SubmittersRCV000021916 RCV000759006

NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)

SNV
Germline

Chr3:15641932

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278189

rs_397514352

2 SubmittersRCV003499922

NM_001370658.1(BTD):c.281G>T (p.Gly94Val)

SNV
Germline

Chr3:15641939

Pathogenic

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278191

rs_375712490

9 SubmittersRCV000021918 RCV000759007 RCV002513162

NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)

SNV
Germline

Chr3:15641962

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA278195

rs_397514354

4 SubmittersRCV000021920 RCV000755882 RCV005237401

NM_001370658.1(BTD):c.322T>G (p.Phe108Val)

SNV
Germline

Chr3:15641980

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA278197

rs_397514355

2 SubmittersRCV003474459

NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)

SNV
Germline

Chr3:15642022

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder

Criteria Provided
Conflicting Classifications

CA278199

rs_397514357

7 SubmittersRCV000021923 RCV000438885 RCV001266904 RCV003904859

NM_001370658.1(BTD):c.383G>A (p.Arg128His)

SNV
Germline

Chr3:15642041

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA278201

rs_367902696

8 SubmittersRCV000021924 RCV000490188 RCV003226165 RCV002513163

NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)

SNV
Germline

Chr3:15642043

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278206

rs_397514359

3 SubmittersRCV000021926 RCV004700264

NM_001370658.1(BTD):c.399G>A (p.Glu133=)

SNV
Germline

Chr3:15642057

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278210

rs_397514360

6 SubmittersRCV000021928 RCV000425369

NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr3:15644322

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278213

rs_397514362

4 SubmittersRCV000021930

NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)

SNV
Germline

Chr3:15644325

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278215

rs_397514363

6 SubmittersRCV000021931 RCV000414201

NM_001370658.1(BTD):c.425C>T (p.Ala142Val)

SNV
Germline

Chr3:15644341

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278217

rs_397514364

5 SubmittersRCV000021934

NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)

SNV
Germline

Chr3:15644367

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA285305

rs_13073139

25 SubmittersRCV000031859 RCV000078073 RCV002514126

NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)

SNV
Germline

Chr3:15644384

Pathogenic

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220325

rs_397514367

12 SubmittersRCV000021938 RCV000078074 RCV000623242

NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)

SNV
Germline

Chr3:15644413

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220327

rs_397514369

11 SubmittersRCV000021940 RCV000790752

NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)

SNV
Germline

Chr3:15644439

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278225

rs_397514370

6 SubmittersRCV000021942 RCV000727575

NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)

SNV
Germline

Chr3:15644440

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278227

rs_397514371

1 SubmittersRCV002664294

NM_001370658.1(BTD):c.535G>A (p.Val179Met)

SNV
Germline

Chr3:15644451

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
BTD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278235

rs_397514375

13 SubmittersRCV000021947 RCV000985649 RCV003415728

NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)

SNV
Germline

Chr3:15644461

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA278237

rs_397514376

5 SubmittersRCV002966879

NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)

SNV
Germline

Chr3:15644487

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278241

rs_372844636

8 SubmittersRCV000021950 RCV000508413

NM_001370658.1(BTD):c.572G>A (p.Arg191His)

SNV
Germline

Chr3:15644488

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided
BTD-related disorder

Criteria Provided
Conflicting Classifications

CA220331

rs_112195009

8 SubmittersRCV000021951 RCV000078077 RCV004751220

NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)

SNV
Germline

Chr3:15644497

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278395

rs_397514377

11 SubmittersRCV000032022 RCV000520641

NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)

SNV
Germline

Chr3:15644499

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278243

rs_190386869

6 SubmittersRCV000021953

NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)

SNV
Germline

Chr3:15644510

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278247

rs_397514379

3 SubmittersRCV003474454

NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)

SNV
Germline

Chr3:15644538

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA278249

rs_397514380

5 SubmittersRCV000185805 RCV003473119

NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)

SNV
Germline

Chr3:15644565

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278250

rs_397514381

3 SubmittersRCV000021958

NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)

SNV
Germline

Chr3:15644599

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278254

rs_397514382

7 SubmittersRCV000021960 RCV001284605

NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)

SNV
Germline

Chr3:15644613

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278256

rs_397514383

5 SubmittersRCV000021961

NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)

SNV
Germline

Chr3:15644620

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278258

rs_397514384

6 SubmittersRCV000021962

NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)

SNV
Germline

Chr3:15644670

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278262

rs_397514387

3 SubmittersRCV000021965

NM_001370658.1(BTD):c.772C>G (p.Leu258Val)

SNV
Germline

Chr3:15644688

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278264

rs_397514388

2 SubmittersRCV000021966

NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)

SNV
Germline

Chr3:15644689

Pathogenic/Likely pathogenic

Biotinidase deficiency
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA278266

rs_397514389

6 SubmittersRCV000021967 RCV001251702

NM_001370658.1(BTD):c.827T>G (p.Val276Gly)

SNV
Germline

Chr3:15644743

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA278272

rs_397514391

3 SubmittersRCV001310478 RCV003323364 RCV003497832

NM_001370658.1(BTD):c.836C>T (p.Ala279Val)

SNV
Germline

Chr3:15644752

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278274

rs_397514392

2 SubmittersRCV003499927 RCV005407184

NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)

SNV
Germline

Chr3:15644785

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278276

rs_397514393

1 SubmittersRCV003499928

NM_001370658.1(BTD):c.872G>A (p.Ser291Asn)

SNV
Germline

Chr3:15644788

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_397514394

2 SubmittersRCV005139558

NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)

SNV
Germline

Chr3:15644790

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278283

rs_397514396

2 SubmittersRCV000021976

NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)

SNV
Germline

Chr3:15644791

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278285

rs_377651057

3 SubmittersRCV000021977 RCV004700265

NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)

SNV
Germline

Chr3:15645190

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278330

rs_397514402

6 SubmittersRCV000022007 RCV000985644

NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)

SNV
Germline

Chr3:15645070

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278302

rs_397514406

2 SubmittersRCV002651648

NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)

SNV
Germline

Chr3:15645108

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278305

rs_397514408

5 SubmittersRCV000021994

NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)

SNV
Germline

Chr3:15645109

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278309

rs_397514410

5 SubmittersRCV000021996

NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)

SNV
Germline

Chr3:15645123

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278312

rs_397514412

7 SubmittersRCV000021998 RCV002477004

NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)

SNV
Germline

Chr3:15645127

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278316

rs_397514335

3 SubmittersRCV000022000 RCV000493447

NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)

SNV
Germline

Chr3:15645169

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278324

rs_397514415

1 SubmittersRCV002651649

NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)

SNV
Germline

Chr3:15645170

Pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278326

rs_397514416

5 SubmittersRCV000022005 RCV002281043

NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)

SNV
Germline

Chr3:15645195

Pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278332

rs_397514418

5 SubmittersRCV000022008 RCV006263635

NM_001370658.1(BTD):c.1309G>A (p.Val437Met)

SNV
Germline

Chr3:15645225

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278335

rs_146600671

1 SubmittersRCV002651650

NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)

SNV
Germline

Chr3:15645244

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278338

rs_397514421

2 SubmittersRCV000022012

NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)

SNV
Germline

Chr3:15645288

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278340

rs_181396238

4 SubmittersRCV000022014 RCV000484254

NM_001370658.1(BTD):c.1395C>G (p.His465Gln)

SNV
Germline

Chr3:15645311

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278342

rs_201604102

8 SubmittersRCV000022015 RCV002477005 RCV002513165

NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)

SNV
Germline

Chr3:15645315

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278344

rs_397514422

3 SubmittersRCV000434827 RCV005089295 RCV006268084

NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)

SNV
Germline

Chr3:15645345

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220317

rs_138818907

15 SubmittersRCV000022019 RCV000078068

NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)

SNV
Germline

Chr3:15645387

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA278352

rs_397514427

4 SubmittersRCV000022022

NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)

SNV
Germline

Chr3:15645466

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278354

rs_397514428

1 SubmittersRCV003499930

NM_001370658.1(BTD):c.1553G>A (p.Arg518His)

SNV
Germline

Chr3:15645469

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278356

rs_397514429

7 SubmittersRCV000022024 RCV004589521

NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)

SNV
Germline

Chr3:15645475

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278359

rs_397514431

3 SubmittersRCV000022026

NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)

SNV
Germline

Chr3:15645485

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220321

rs_146136265

10 SubmittersRCV000022028 RCV000078071

NM_001370658.1(BTD):c.604G>C (p.Asp202His)

SNV
Germline

Chr3:15644520

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA278366

rs_200337373

1 SubmittersRCV003499923

NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)

SNV
Germline

Chr3:15644857

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278368

rs_397514433

2 SubmittersRCV002651647 RCV005406616

NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)

SNV
Germline

Chr3:15645288

Conflicting classifications of pathogenicity

Biotinidase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278372

rs_181396238

8 SubmittersRCV000022034 RCV001266891 RCV003476902

NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)

SNV
Germline

Chr3:15644485

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278239

rs_397507174

4 SubmittersRCV000021949 RCV000724129

NM_001370658.1(BTD):c.499C>T (p.Pro167Ser)

SNV
Germline

Chr3:15644415

Conflicting classifications of pathogenicity

not specified
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

rs_397507173

3 SubmittersRCV004699969 RCV005023650

NM_001370658.1(BTD):c.908A>G (p.His303Arg)

SNV
Germline

Chr3:15644824

Conflicting classifications of pathogenicity

Biotinidase deficiency
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA220339

rs_397507176

16 SubmittersRCV000021978 RCV000622271 RCV000723564 RCV002298452

NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)

SNV
Germline

Chr3:15644590

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278252

rs_397507175

6 SubmittersRCV000021959 RCV000724643

NM_001370658.1(BTD):c.410G>A (p.Arg137His)

SNV
Germline

Chr3:15644326

Pathogenic

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220323

rs_146015592

13 SubmittersRCV000021904 RCV000078072 RCV005532573

NM_001370658.1(BTD):c.124G>A (p.Val42Met)

SNV
Germline

Chr3:15635563

Pathogenic/Likely pathogenic

Biotinidase deficiency
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA278152

rs_397507170

8 SubmittersRCV000021895 RCV005888842

NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)

SNV
Germline

Chr3:15644721

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA081769

rs_397514334

1 SubmittersRCV001975221

NM_001370658.1(BTD):c.176G>A (p.Arg59His)

SNV
Germline

Chr3:15635615

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278166

rs_397514343

7 SubmittersRCV000021905 RCV003125847

NM_001370658.1(BTD):c.68A>G (p.His23Arg)

SNV
Germline

Chr3:15635507

Conflicting classifications of pathogenicity

Biotinidase deficiency
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA278364

rs_146011150

7 SubmittersRCV000022030 RCV001251701 RCV002513289

NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)

SNV
Germline

Chr3:15635591

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278161

rs_397514333

6 SubmittersRCV000021900 RCV000427971

NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)

SNV
Germline

Chr3:15645014

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278383

rs_397514434

3 SubmittersRCV000032015

NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)

SNV
Germline

Chr3:15635571

Pathogenic

Biotinidase deficiency
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA278386

rs_397514436

2 SubmittersRCV000032017 RCV000506513

NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)

SNV
Germline

Chr3:15644614

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278390

rs_397514438

2 SubmittersRCV003499925

NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)

SNV
Germline

Chr3:15645093

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278392

rs_374141881

5 SubmittersRCV000032020 RCV003480039

NM_001370658.1(BTD):c.566G>A (p.Arg189His)

SNV
Germline

Chr3:15644482

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
BTD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220329

rs_398123139

12 SubmittersRCV000144058 RCV000507456 RCV003905037

NM_001370658.1(BTD):c.197T>G (p.Met66Arg)

SNV
Germline

Chr3:15635636

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA278433

rs_587783002

4 SubmittersRCV000144056 RCV003323415

NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)

SNV
Germline

Chr3:15642053

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278435

rs_587783003

3 SubmittersRCV000144057 RCV000985647

NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)

SNV
Germline

Chr3:15644557

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278439

rs_587783005

8 SubmittersRCV000144060

NM_001370658.1(BTD):c.838A>C (p.Asn280His)

SNV
Germline

Chr3:15644754

Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA278441

rs_587783006

2 SubmittersRCV000144061 RCV000494587

NM_001370658.1(BTD):c.339G>A (p.Pro113=)

SNV
Germline

Chr3:15641997

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA243087

rs_181743799

3 SubmittersRCV000176974 RCV000714993

NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)

SNV
Germline

Chr3:15645331

Conflicting classifications of pathogenicity

BTD-related disorder
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA312371

rs_1553654190

2 SubmittersRCV003414156 RCV003497997

NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)

SNV
Germline

Chr3:15645468

Pathogenic/Likely pathogenic

Biotinidase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA312375

rs_80338686

7 SubmittersRCV000409281 RCV000623390

NM_001370658.1(BTD):c.201C>T (p.Asn67=)

SNV
Germline

Chr3:15635640

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2277271

rs_147057169

7 SubmittersRCV000633685 RCV000726430

NM_001370658.1(BTD):c.-148C>T

SNV
Germline

Chr3:15601763

Pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA2277149

rs_774964227

2 SubmittersRCV000380207 RCV001354666

NM_001370658.1(BTD):c.-17+1G>A

SNV
Germline

Chr3:15601895

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA16040905

rs_1057516440

4 SubmittersRCV000409752

NM_001370658.1(BTD):c.-17+1G>C

SNV
Unknown

Chr3:15601895

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA16040906

rs_1057516440

1 SubmittersRCV000410337

NM_001370658.1(BTD):c.-17+1G>T

SNV
Unknown

Chr3:15601895

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA16040907

rs_1057516440

1 SubmittersRCV000411884

NM_001370658.1(BTD):c.249+1G>T

SNV
Germline

Chr3:15635689

Likely pathogenic

Biotinidase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA2277279

rs_373249212

4 SubmittersRCV000409760 RCV005532636

NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)

SNV
Germline

Chr3:15644985

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA16040911

rs_1057516252

2 SubmittersRCV000410177

NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)

SNV
Germline

Chr3:15642040

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA2277309

rs_137877018

4 SubmittersRCV000414058 RCV000675064

NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)

SNV
Germline

Chr3:15644520

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency
not specified
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2277359

rs_200337373

7 SubmittersRCV000420327 RCV000675128 RCV001731677 RCV001251699 RCV004022351

NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)

SNV
Germline

Chr3:15635641

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency
Inborn genetic diseases
BTD-related disorder

Criteria Provided
Conflicting Classifications

CA2277272

rs_151071780

9 SubmittersRCV000755884 RCV000876680 RCV002521735 RCV003912709

NM_001370658.1(BTD):c.806C>T (p.Ala269Val)

SNV
Germline

Chr3:15644722

Pathogenic/Likely pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16604827

rs_1057520533

5 SubmittersRCV000428786 RCV000675056

NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)

SNV
Germline

Chr3:15645162

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA2277452

rs_749460715

3 SubmittersRCV000483848 RCV000675109

NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)

SNV
Germline

Chr3:15645249

Likely pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Single Submitter

CA2277467

rs_746099217

2 SubmittersRCV000483575 RCV000675116

NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)

SNV
Germline

Chr3:15641929

Conflicting classifications of pathogenicity

not specified
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA351605101

rs_1553653070

2 SubmittersRCV000507334 RCV001348854

NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)

SNV
Germline

Chr3:15644751

Pathogenic/Likely pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351607446

rs_1157567876

5 SubmittersRCV000508475 RCV000715008

NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)

SNV
Germline

Chr3:15645459

Conflicting classifications of pathogenicity

not specified
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA351962544

rs_771537277

2 SubmittersRCV000505981 RCV001309054

NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)

SNV
Germline

Chr3:15645469

Conflicting classifications of pathogenicity

not specified
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA351962560

rs_397514429

2 SubmittersRCV000506930 RCV001315219

NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)

SNV
Germline

Chr3:15644481

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA2277351

rs_369102875

11 SubmittersRCV000537387 RCV001591206 RCV002527692

NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)

SNV
Germline

Chr3:15645217

Pathogenic/Likely pathogenic

Biotinidase deficiency
Condition: not provided
BTD-related disorder
Possible mitochondrial disorder - nuclear genes

Criteria Provided
Multiple Submitters
No Conflicts

CA2277463

rs_397514345

12 SubmittersRCV000524591 RCV001578266 RCV004751584 RCV005859346

NM_001370658.1(BTD):c.1536G>A (p.Thr512=)

SNV
Germline

Chr3:15645452

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency
BTD-related disorder

Criteria Provided
Conflicting Classifications

CA2277499

rs_774052068

4 SubmittersRCV000597261 RCV000801863 RCV003962699

NM_001370658.1(BTD):c.239C>T (p.Ala80Val)

SNV
Germline

Chr3:15635678

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351604172

rs_1553652171

3 SubmittersRCV000673777 RCV003117479

NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr3:15641914

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351605034

rs_1553653062

3 SubmittersRCV000669656

NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)

SNV
Germline

Chr3:15642018

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351605672

rs_1306944669

3 SubmittersRCV000672734

NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)

SNV
Germline

Chr3:15644941

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA2277419

rs_747548016

2 SubmittersRCV000665777

NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)

SNV
Germline

Chr3:15644982

Likely pathogenic

Biotinidase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA351608129

rs_760612966

2 SubmittersRCV000667458 RCV003456422

NM_001370658.1(BTD):c.*159G>A

SNV
Germline

Chr3:15645647

Pathogenic/Likely pathogenic

Biotinidase deficiency
BTD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA70623461

rs_530872564

5 SubmittersRCV000671749 RCV003945702

NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)

SNV
Germline

Chr3:15645225

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351608653

rs_146600671

3 SubmittersRCV000665732 RCV006265182

NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)

SNV
Germline

Chr3:15645295

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency
BTD-related disorder

Criteria Provided
Conflicting Classifications

CA2277476

rs_558477960

8 SubmittersRCV001355022 RCV000664856 RCV004751654

NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)

SNV
Unknown

Chr3:15645316

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA351608938

rs_1277029090

1 SubmittersRCV000672288

NM_001370658.1(BTD):c.250-1G>T

SNV
Unknown

Chr3:15641907

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA351605014

rs_1553653053

1 SubmittersRCV000666795

NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)

SNV
Germline

Chr3:15645190

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351608570

rs_397514402

2 SubmittersRCV000672281

NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)

SNV
Germline

Chr3:15644335

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2277336

rs_745343884

2 SubmittersRCV000693060

NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)

SNV
Germline

Chr3:15644438

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351606482

rs_750363004

3 SubmittersRCV000714997

NM_001370658.1(BTD):c.710T>A (p.Val237Asp)

SNV
Germline

Chr3:15644626

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351607167

rs_1190721481

2 SubmittersRCV003499926 RCV004801364

NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)

SNV
Germline

Chr3:15644671

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA70622203

rs_148031701

2 SubmittersRCV003155628

NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)

SNV
Unknown

Chr3:15645382

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351962383

rs_1559601041

1 SubmittersRCV003474468

NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)

SNV
Germline

Chr3:15645484

Conflicting classifications of pathogenicity

not specified
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA70623352

rs_1050035768

3 SubmittersRCV003230963 RCV003475551

NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr3:15645303

Pathogenic/Likely pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351608885

rs_1559600871

3 SubmittersRCV000755883 RCV001065482

NM_001370658.1(BTD):c.1278T>C (p.Leu426=)

SNV
Germline

Chr3:15645194

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA432819431

rs_1559600608

2 SubmittersRCV000759003 RCV006464149

NM_001370658.1(BTD):c.400-2A>G

SNV
Germline

Chr3:15644314

Likely pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA70621386

rs_904882409

2 SubmittersRCV000759008 RCV006464150

NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)

SNV
Germline

Chr3:15645484

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA351962593

rs_1050035768

3 SubmittersRCV000985098

NM_001370658.1(BTD):c.265G>C (p.Val89Leu)

SNV
Germline

Chr3:15641923

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA2277295

rs_372416959

4 SubmittersRCV000985645 RCV003769290 RCV005408115

NM_001370658.1(BTD):c.262A>G (p.Ile88Val)

SNV
Germline

Chr3:15641920

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA70619149

rs_976185636

3 SubmittersRCV000987130 RCV001844252

NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)

SNV
Germline

Chr3:15644412

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA70621546

rs_955385869

2 SubmittersRCV000987131

NM_001370658.1(BTD):c.705C>G (p.Ile235Met)

SNV
Unknown

Chr3:15644621

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351607143

rs_1575029719

1 SubmittersRCV000987132

NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)

SNV
Unknown

Chr3:15645381

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351962379

rs_1344607767

1 SubmittersRCV000987134

NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)

SNV
Germline

Chr3:15645175

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA351608540

rs_1575031012

2 SubmittersRCV000998009 RCV003444022

NM_001370658.1(BTD):c.249+1G>A

SNV
Unknown

Chr3:15635689

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA2277278

rs_373249212

1 SubmittersRCV001195863

NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)

SNV
Germline

Chr3:15644937

Pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA351608028

rs_1204990361

1 SubmittersRCV001251432

NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)

SNV
Germline

Chr3:15645457

Pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

CA351962542

rs_1210441433

1 SubmittersRCV001251433

NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)

SNV
Germline

Chr3:15645459

Conflicting classifications of pathogenicity

Condition: not provided
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA2277502

rs_771537277

4 SubmittersRCV001284604 RCV001871662

NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)

SNV
Germline

Chr3:15644412

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606362

rs_955385869

1 SubmittersRCV001299844

NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)

SNV
Germline

Chr3:15644598

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351607039

rs_398123140

1 SubmittersRCV001301669

NM_001370658.1(BTD):c.249+5G>T

SNV
Germline

Chr3:15635693

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA1347641422

rs_2065329555

2 SubmittersRCV001316905

NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)

SNV
Germline

Chr3:15644667

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2277381

rs_144575084

2 SubmittersRCV001327642 RCV001800982

NM_001370658.1(BTD):c.-17+2T>C

SNV
Germline

Chr3:15601896

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2277187

rs_745648160

5 SubmittersRCV001379913

NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)

SNV
Germline

Chr3:15642017

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351605664

rs_2125486425

3 SubmittersRCV001381017

NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)

SNV
Germline

Chr3:15644332

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA2277335

rs_144717999

5 SubmittersRCV001619776

NM_001370658.1(BTD):c.424G>C (p.Ala142Pro)

SNV
Germline

Chr3:15644340

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606186

rs_2125500236

1 SubmittersRCV001845039

NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)

SNV
Germline

Chr3:15645187

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351608564

rs_2065662435

1 SubmittersRCV001904240

NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)

SNV
Germline

Chr3:15644432

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA2277342

rs_766476582

2 SubmittersRCV001928662

NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)

SNV
Germline

Chr3:15644504

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606752

rs_2065635815

1 SubmittersRCV001916129

NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)

SNV
Germline

Chr3:15641978

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2277301

rs_575787457

4 SubmittersRCV001977408 RCV005623464

NM_001370658.1(BTD):c.400-10T>G

SNV
Germline

Chr3:15644306

Conflicting classifications of pathogenicity

Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA2277329

rs_750494564

2 SubmittersRCV002125892

NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)

SNV
Germline

Chr3:15644591

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351607003

rs_767518580

1 SubmittersRCV002466297

NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)

SNV
Germline

Chr3:15644466

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606608

rs_2471510851

2 SubmittersRCV002281633

NM_001370658.1(BTD):c.249+2C>G

SNV
Germline

Chr3:15635690

Pathogenic

Condition: not provided
Biotinidase deficiency

Criteria Provided
Single Submitter

CA351604235

rs_2471443659

2 SubmittersRCV002293082 RCV005416042

NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)

SNV
Unknown

Chr3:15635659

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351604070

rs_2065328619

1 SubmittersRCV002310397

NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)

SNV
Germline

Chr3:15645216

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA2277462

rs_200507575

1 SubmittersRCV003061466

NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)

SNV
Germline

Chr3:15644335

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA70621447

rs_745343884

3 SubmittersRCV002664293

NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)

SNV
Germline

Chr3:15645172

Pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351608535

rs_779141922

3 SubmittersRCV002664295

NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)

SNV
Germline

Chr3:15642004

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351605583

rs_2471489744

1 SubmittersRCV002586446

NM_001370658.1(BTD):c.399+2T>G

SNV
Germline

Chr3:15642059

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351605899

rs_2471491093

1 SubmittersRCV002870804

NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)

SNV
Germline

Chr3:15635487

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351602822

rs_201823743

1 SubmittersRCV002943555

NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)

SNV
Germline

Chr3:15645262

Conflicting classifications of pathogenicity

Inborn genetic diseases
Biotinidase deficiency

Criteria Provided
Conflicting Classifications

CA2277471

rs_369316343

2 SubmittersRCV002963063 RCV002963062

NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)

SNV
Unknown

Chr3:15645268

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351608802

rs_773350924

1 SubmittersRCV003233062

NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)

SNV
Unknown

Chr3:15644382

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606278

rs_2471509696

1 SubmittersRCV003474457

NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr3:15644862

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351607733

rs_1303877451

4 SubmittersRCV003474462

NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)

SNV
Germline

Chr3:15645322

Pathogenic/Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351608966

rs_104893692

2 SubmittersRCV003474464

NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)

SNV
Germline

Chr3:15635498

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA351602844

rs_2471439603

3 SubmittersRCV003486506

NM_001370658.1(BTD):c.229G>A (p.Val77Met)

SNV
Germline

Chr3:15635668

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351604118

rs_1559592900

1 SubmittersRCV003499921

NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr3:15644587

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606988

rs_2471512475

1 SubmittersRCV003499924

NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)

SNV
Germline

Chr3:15645053

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351608292

rs_2471518320

2 SubmittersRCV003499929 RCV004526995

NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)

SNV
Germline

Chr3:15645168

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351608527

rs_1279500513

2 SubmittersRCV003497656 RCV005407193

NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)

SNV
Germline

Chr3:15644335

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351606173

rs_745343884

1 SubmittersRCV003600609

NM_001370658.1(BTD):c.875G>T (p.Gly292Val)

SNV
Germline

Chr3:15644791

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351607526

rs_377651057

1 SubmittersRCV003600684

NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)

SNV
Germline

Chr3:15642022

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351605708

rs_397514357

2 SubmittersRCV003602127 RCV005419678

NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)

SNV
Germline

Chr3:15644556

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA351606862

rs_2471511997

2 SubmittersRCV003602392 RCV006454460

NM_001370658.1(BTD):c.881A>T (p.His294Leu)

SNV
Germline

Chr3:15644797

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA351607539

rs_1553653888

1 SubmittersRCV003600057

NM_001370658.1(BTD):c.125T>C (p.Val42Ala)

SNV
Germline

Chr3:15635564

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

CA2277257

rs_780281959

1 SubmittersRCV003601990

NM_001370658.1(BTD):c.253G>A (p.Val85Ile)

SNV
Germline

Chr3:15641911

Conflicting classifications of pathogenicity

Biotinidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351605022

rs_1385213836

2 SubmittersRCV003879243 RCV005628995

NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)

SNV
Unknown

Chr3:15644822

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

rs_746332288

1 SubmittersRCV004575473

NM_001370658.1(BTD):c.1280A>G (p.His427Arg)

SNV
Germline

Chr3:15645196

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004783550

NM_001370658.1(BTD):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:15635442

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005035052

NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter)

SNV
Germline

Chr3:15644486

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005031310

NM_001370658.1(BTD):c.782C>T (p.Ala261Val)

SNV
Germline

Chr3:15644698

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005031311

NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)

SNV
Germline

Chr3:15645186

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005031315

NM_001370658.1(BTD):c.250-1G>A

SNV
Germline

Chr3:15641907

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005117303

NM_001370658.1(BTD):c.311C>T (p.Ser104Phe)

SNV
Germline

Chr3:15641969

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005169207

NM_001370658.1(BTD):c.845A>G (p.His282Arg)

SNV
Germline

Chr3:15644761

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005202430

NM_001370658.1(BTD):c.190G>A (p.Glu64Lys)

SNV
Unknown

Chr3:15635629

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005232600

NM_001370658.1(BTD):c.1167G>A (p.Trp389Ter)

SNV
Germline

Chr3:15645083

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005413391

NM_001370658.1(BTD):c.1215T>A (p.Tyr405Ter)

SNV
Germline

Chr3:15645131

Pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005416057

NM_001370658.1(BTD):c.1243A>T (p.Lys415Ter)

SNV
Germline

Chr3:15645159

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005416058

NM_001370658.1(BTD):c.250-2A>G

SNV
Germline

Chr3:15641906

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005416059

NM_001370658.1(BTD):c.-16-2A>C

SNV
Germline

Chr3:15635422

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005416061

NM_001370658.1(BTD):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr3:15644679

Likely pathogenic

Biotinidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005416064

NM_001370658.1(BTD):c.404T>C (p.Leu135Pro)

SNV
Germline

Chr3:15644320

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005431245

NM_001370658.1(BTD):c.1360G>T (p.Glu454Ter)

SNV
Germline

Chr3:15645276

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005631507

NM_001370658.1(BTD):c.289G>T (p.Gly97Ter)

SNV
Germline

Chr3:15641947

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005636226

NM_001370658.1(BTD):c.582C>A (p.Asn194Lys)

SNV
Germline

Chr3:15644498

Conflicting classifications of pathogenicity

Biotinidase deficiency
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006613752 RCV006248536

NM_001370658.1(BTD):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr3:15645387

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006258095

NM_001370658.1(BTD):c.466A>G (p.Lys156Glu)

SNV
Germline

Chr3:15644382

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006478207

NM_001370658.1(BTD):c.158C>T (p.Pro53Leu)

SNV
Germline

Chr3:15635597

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006499564

NM_001370658.1(BTD):c.575A>T (p.Lys192Ile)

SNV
Germline

Chr3:15644491

Pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006493594

NM_001370658.1(BTD):c.184G>A (p.Ala62Thr)

SNV
Germline

Chr3:15635623

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006540462

NM_001370658.1(BTD):c.641C>A (p.Thr214Asn)

SNV
Germline

Chr3:15644557

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006540463

NM_001370658.1(BTD):c.1430C>T (p.Pro477Leu)

SNV
Germline

Chr3:15645346

Likely pathogenic

Biotinidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006570317