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ClinVar

Relating variation to medicine

Human Genome Sequencing Center Clinical Lab (Baylor College of Medicine), HGSC-CL

General information

Human Genome Sequencing Center Clinical Lab, HGSC-CL
Baylor College of Medicine
One Baylor Plaza
Room R830
Houston
Texas
United States - 77030
http://hgsc.bcm.edu/
Organization ID: 500199

Personnel

Adam Hanson, Staff
Phone: 713-798-6539
Email: adam.hansen@bcm.edu
Yunyun Jiang, Contact
Phone: 713 798 3936
Email: Yunyun.Jiang@bcm.edu
He Li, Staff
Phone: 713 798 3936
Email: he.li@bcm.edu
Eric Venner, Contact
Phone: 713 798 9132
Email: venner@bcm.edu

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015

Summary of submissions to ClinVar

Total submissions: 607

Gene

Enter text to narrow down the list

Gene	Submissions	Last Updated
ABCA1	1	Jul 14, 2021
ACTA2	1	Apr 23, 2020
ACTA2-AS1	1	Apr 23, 2020
AHDC1	27	Feb 15, 2021
ALK	1	Sep 6, 2020
APC	3	Apr 23, 2020
APOB	8	Jul 14, 2021
ATM	22	Apr 23, 2020
ATP1A2	1	Apr 23, 2020
BMPR1A	1	Apr 23, 2020
BRCA1	40	Sep 6, 2020
BRCA2	56	Sep 6, 2020
C11orf65	10	Apr 23, 2020
CACNA1A	3	Apr 23, 2020
CACNA1S	2	Apr 23, 2020
CBL	2	Sep 6, 2020
CCDST	1	Jun 14, 2018
CHEK2	15	Apr 23, 2020
COL3A1	5	Apr 23, 2020
COL5A1	7	Apr 23, 2020
DICER1	2	Sep 6, 2020
DSC2	5	Apr 23, 2020
DSG2	8	Jul 14, 2021
DSG2-AS1	4	Jul 14, 2021
DSP	8	Apr 23, 2020
DSP-AS1	1	Apr 23, 2020
ELN	1	Jul 14, 2021
F11	2	Apr 23, 2020
F5	1	Jun 14, 2018
FBN1	12	Jul 14, 2021
FLG	1	Jun 14, 2018
GLA	2	Jul 14, 2021
HFE	1	Jun 14, 2018
HNF1A	3	Apr 23, 2020
HNF1B	2	Apr 23, 2020
HRAS	2	Sep 6, 2020
INSL6	1	Jun 14, 2018
JAK2	1	Jun 14, 2018
KCNE1	4	Apr 23, 2020
KCNE2	1	Jun 14, 2018
KCNH2	8	Jul 14, 2021
KCNJ2	2	Apr 23, 2020
KCNQ1	14	Apr 23, 2020
KCNQ1-AS1	2	Apr 23, 2020
KIF1A	1	Apr 27, 2020
LDLR	67	Jul 14, 2021
LDLR-AS1	1	Apr 23, 2020
LMNA	3	Apr 23, 2020
LOC105372791	1	Jun 14, 2018
LOC107303340	2	Apr 23, 2020
LOC107982234	1	Apr 23, 2020
LOC113939944	1	Apr 23, 2020
LOC126805877	1	Apr 23, 2020
LOC126806068	1	Apr 23, 2020
LOC126861897	1	Apr 23, 2020
LOC126861898	2	Jun 14, 2018
LOC126862482	1	May 8, 2020
LOC126862571	9	Apr 23, 2020
LOC130062899	1	Apr 23, 2020
LPL	3	Jul 14, 2021
LRRC56	2	Sep 6, 2020
MC4R	3	Jun 14, 2018
MED13L	1	Dec 10, 2019
MEFV	1	Jun 14, 2018
MEN1	2	Apr 23, 2020
MHRT	1	Apr 23, 2020
MLH1	11	Apr 23, 2020
MSH2	5	Sep 6, 2020
MSH6	10	Sep 6, 2020
MYBPC3	11	Jul 14, 2021
MYH11	5	Apr 23, 2020
MYH7	13	Jul 14, 2021
MYL3	1	Jun 14, 2018
MYLK	3	Apr 23, 2020
NDE1	2	Apr 23, 2020
NEXN	1	Jul 14, 2021
NF1	9	Sep 6, 2020
OTC	1	Jun 14, 2018
PALB2	17	Apr 23, 2020
PCSK9	4	Apr 23, 2020
PKP2	12	Jul 14, 2021
PMS2	14	Sep 6, 2020
POLE	1	Apr 23, 2020
POLR2A	11	May 8, 2020
PRKAR1A	1	Jul 14, 2021
PTCH1	1	Sep 6, 2020
PTEN	6	Sep 6, 2020
RET	5	Apr 23, 2020
RPL36A-HNRNPH2	2	Jul 14, 2021
RYR1	22	Apr 23, 2020
RYR2	6	Apr 23, 2020
SCN5A	11	Apr 23, 2020
SDHA	4	Jul 14, 2021
SDHB	2	Jun 14, 2018
SDHC	3	Sep 6, 2020
SERPINA1	1	Jun 14, 2018
SMAD3	1	Jun 14, 2018
SMAD4	1	Jun 14, 2018
STK11	2	Apr 23, 2020
TGFB2	1	Jul 14, 2021
TGFBR2	3	Apr 23, 2020
TMEM43	2	Apr 23, 2020
TNNI3	4	Jul 14, 2021
TNNT2	5	Apr 23, 2020
TOR1A	1	Apr 23, 2020
TP53	17	Sep 6, 2020
TPM1	1	Apr 23, 2020
TSC1	2	Apr 23, 2020
TSC2	8	Apr 23, 2020
TTN	3	Jul 14, 2021
TTN-AS1	3	Jul 14, 2021
TUSC3	1	Dec 6, 2019
UMOD	3	Apr 23, 2020
VHL	2	Apr 23, 2020
WT1	2	Apr 23, 2020

Condition

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Name	Submissions	Last Updated
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	27	Feb 15, 2021
Acquired polycythemia vera	1	Jun 14, 2018
Alpha-1-antitrypsin deficiency	1	Jun 14, 2018
Alternating hemiplegia of childhood	1	Apr 23, 2020
Andersen Tawil syndrome	2	Apr 23, 2020
Aneurysm-osteoarthritis syndrome	1	Jun 14, 2018
Aortic aneurysm, familial thoracic 4	5	Apr 23, 2020
Aortic aneurysm, familial thoracic 6	1	Apr 23, 2020
Aortic aneurysm, familial thoracic 7	3	Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 10	9	Jul 14, 2021
Arrhythmogenic right ventricular dysplasia 11	5	Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 5	2	Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 8	8	Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 9	12	Jul 14, 2021
Ataxia-telangiectasia syndrome	14	Apr 23, 2020
Breast cancer, susceptibility to	26	Apr 23, 2020
Breast-ovarian cancer, familial, susceptibility to, 1	39	Apr 23, 2020
Breast-ovarian cancer, familial, susceptibility to, 2	50	Apr 23, 2020
Brugada syndrome 1	6	Apr 23, 2020
Catecholaminergic polymorphic ventricular tachycardia 1	6	Apr 23, 2020
Colorectal cancer susceptibility 12	1	Apr 23, 2020
Colorectal cancer, hereditary nonpolyposis, type 2	11	Apr 23, 2020
Cowden syndrome 1	2	Jun 14, 2018
Dilated cardiomyopathy 1A	3	Apr 23, 2020
Dilated cardiomyopathy 1CC	1	Jul 14, 2021
Dilated cardiomyopathy 1D	5	Apr 23, 2020
Dilated cardiomyopathy 1G	3	Jul 14, 2021
Early-onset generalized limb-onset dystonia	1	Apr 23, 2020
Ehlers-Danlos syndrome, classic type, 1	7	Apr 23, 2020
Ehlers-Danlos syndrome, type 4	5	Apr 23, 2020
Episodic ataxia type 2	3	Apr 23, 2020
Fabry disease	2	Jul 14, 2021
Factor V deficiency	1	Jun 14, 2018
Factor XI	1	Apr 23, 2020
Familial Mediterranean fever	1	Jun 14, 2018
Familial adenomatous polyposis 1	3	Apr 23, 2020
Familial cancer of breast	28	Jun 14, 2018
Familial hypercholesterolemia	31	Apr 23, 2020
Familial juvenile hyperuricemic nephropathy type 1	3	Apr 23, 2020
Generalized juvenile polyposis/juvenile polyposis coli	2	Apr 23, 2020
Hemochromatosis type 1	1	Jun 14, 2018
Hereditary factor XI deficiency disease	1	Jun 14, 2018
Hypercholesterolemia, autosomal dominant, 3	4	Apr 23, 2020
Hypercholesterolemia, autosomal dominant, type B	2	Jul 14, 2021
Hypercholesterolemia, familial, 1	42	Jul 14, 2021
Hyperlipidemia, familial combined, LPL related	3	Jul 14, 2021
Hypertrophic cardiomyopathy 1	13	Jul 14, 2021
Hypertrophic cardiomyopathy 2	3	Apr 23, 2020
Hypertrophic cardiomyopathy 3	1	Apr 23, 2020
Hypertrophic cardiomyopathy 4	11	Jul 14, 2021
Hypertrophic cardiomyopathy 7	4	Jul 14, 2021
Hypertrophic cardiomyopathy 8	1	Jun 14, 2018
Hypoalphalipoproteinemia, primary, 1	1	Jul 14, 2021
Ichthyosis vulgaris	1	Jun 14, 2018
Intellectual disability	3	Dec 10, 2019
Intellectual disability, autosomal dominant 9	1	Apr 27, 2020
Jervell and Lange-Nielsen syndrome 1	7	Apr 23, 2020
Jervell and Lange-Nielsen syndrome 2	1	Apr 23, 2020
Li-Fraumeni syndrome	4	Apr 23, 2020
Li-Fraumeni syndrome 1	2	Jun 14, 2018
Loeys-Dietz syndrome 2	3	Apr 23, 2020
Loeys-Dietz syndrome 4	1	Jul 14, 2021
Long QT syndrome 1	14	Apr 23, 2020
Long QT syndrome 2	8	Jul 14, 2021
Long QT syndrome 3	11	Apr 23, 2020
Long QT syndrome 5	4	Apr 23, 2020
Long QT syndrome 6	1	Jun 14, 2018
Lynch syndrome 1	4	Apr 23, 2020
Lynch syndrome 4	13	Apr 23, 2020
Lynch syndrome 5	9	Apr 23, 2020
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA	5	Apr 23, 2020
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB	1	Apr 23, 2020
Malignant hyperthermia, susceptibility to, 1	22	Apr 23, 2020
Malignant hyperthermia, susceptibility to, 5	2	Apr 23, 2020
Marfan syndrome	12	Jul 14, 2021
Maturity-onset diabetes of the young type 3	3	Apr 23, 2020
Migraine, familial hemiplegic, 2	1	Apr 23, 2020
Multiple endocrine neoplasia, type 1	2	Apr 23, 2020
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	10	May 8, 2020
Obesity	3	Jun 14, 2018
Ornithine carbamoyltransferase deficiency	1	Jun 14, 2018
PTEN hamartoma tumor syndromes	3	Apr 23, 2020
Pancreatic cancer, susceptibility to, 3	7	Apr 23, 2020
Paragangliomas 3	2	Apr 23, 2020
Paragangliomas 4	2	Jun 14, 2018
Paragangliomas 5	2	Jul 14, 2021
Peutz-Jeghers syndrome	2	Apr 23, 2020
Prostate cancer, susceptibility to	5	Apr 23, 2020
Renal cysts and diabetes syndrome	2	Apr 23, 2020
Rhabdomyosarcoma	42	Sep 6, 2020
Supravalvar aortic stenosis	1	Jul 14, 2021
Tuberous sclerosis 1	2	Apr 23, 2020
Tuberous sclerosis 2	8	Apr 23, 2020
Von Hippel-Lindau syndrome	2	Apr 23, 2020
Wilms tumor 1	2	Apr 23, 2020
not specified	1	May 8, 2020