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Seattle Children's Hospital Molecular Genetics Laboratory (Seattle Children's Hospital), SCH MGL

General information

Seattle Children's Hospital Molecular Genetics Laboratory, SCH MGL
Seattle Children's Hospital
M/S OC.8.720, 4800 Sand Point Way NE
Seattle
Washington
United States - 98105

Organization ID: 506512

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 439

Gene

GeneSubmissionsLast Updated
ABCA36Oct 31, 2023
ABCC84Jan 30, 2024
ACTG27Oct 31, 2023
ACVRL11Mar 9, 2022
AKR1C21Mar 9, 2022
ALPL3Mar 14, 2022
AMH1Mar 14, 2022
AMHR22Oct 31, 2023
ANOS11Mar 14, 2022
AR5Jan 29, 2024
ARID1B2Aug 31, 2022
BRAF2Jan 30, 2024
C12orf431May 16, 2022
CAMK41Aug 31, 2022
CCBE11Mar 15, 2022
CCM22Mar 17, 2022
CCNH11Oct 31, 2023
CDC451Oct 31, 2023
CEL1Mar 17, 2022
CELSR11Mar 17, 2022
CHD71Mar 17, 2022
CHD81Mar 17, 2022
CNTNAP21Apr 7, 2022
COPA1Oct 31, 2023
CTNNB11Apr 7, 2022
CUL71Oct 31, 2023
CYP17A12Apr 12, 2022
DICER11Apr 12, 2022
DMRT11Apr 12, 2022
ENG9Oct 31, 2023
EPHB412Oct 31, 2023
ERF2May 16, 2022
FAT45May 16, 2022
FGF101Oct 31, 2023
FGFR11May 16, 2022
FGFR25Mar 27, 2023
FGFR34May 16, 2022
FLNA2May 16, 2022
FLT47Oct 31, 2023
FOXF11May 16, 2022
GATA21May 16, 2022
GCK11Oct 31, 2023
GLI32Aug 31, 2022
GLMN5May 16, 2022
GNA113May 16, 2022
GNA141May 16, 2022
GNAQ5Oct 31, 2023
GNRHR1May 16, 2022
GPC31Aug 31, 2022
HESX11Oct 31, 2023
HNF1A9Oct 31, 2023
HNF1B1May 16, 2022
HNF4A2Oct 31, 2023
HPS11Aug 31, 2022
HRAS2May 16, 2022
IDH11May 16, 2022
IDH22Jan 30, 2024
IDH2-DT1Oct 31, 2023
INS1Dec 5, 2022
INS-IGF21Dec 5, 2022
ITGA32Oct 31, 2023
KCNJ113Oct 31, 2023
KLF111May 16, 2022
KRAS6Oct 31, 2023
KRIT12Oct 31, 2023
LOC1019280511Mar 9, 2022
LOC1027235663Oct 31, 2023
LOC1268066581Apr 7, 2022
LOC1268601241Jun 17, 2021
LOC1299980211Oct 31, 2023
LOC1300678641May 16, 2022
LRRC562May 16, 2022
MAF1May 16, 2022
MAMLD11May 16, 2022
MAP2K15May 16, 2022
MAP3K31May 16, 2022
MARS12Oct 31, 2023
MBD51Apr 26, 2023
MECP24Mar 13, 2023
MEGF85Oct 31, 2023
MSX21Oct 31, 2023
MYLK1Oct 31, 2023
NEUROG31Oct 31, 2023
NLRP31Jan 30, 2024
NRAS1May 16, 2022
PAX42Apr 19, 2023
PDGFRB2May 16, 2022
PDX11Oct 31, 2023
PIK3CA26Jan 30, 2024
PIK3R11Jan 30, 2024
PROKR21May 16, 2022
PTEN6Jan 30, 2024
PTPN141May 16, 2022
RASA112Oct 31, 2023
RBM201Aug 31, 2022
RUNX21May 16, 2022
SFTPA11May 16, 2022
SFTPA21May 16, 2022
SFTPB1May 16, 2022
SFTPC1Oct 31, 2023
SLC12A91May 16, 2022
SOX181May 16, 2022
SPECC1L1Oct 31, 2023
SPECC1L-ADORA2A1Oct 31, 2023
SRD5A23Oct 31, 2023
SRY1Jul 6, 2021
STAR2May 16, 2022
TCF124May 16, 2022
TEK11Oct 31, 2023
TWIST12Oct 31, 2023
TYMP1May 16, 2022
UCP21Oct 31, 2023
WT11Oct 31, 2023
WWOX1May 16, 2022

Condition

NameSubmissionsLast Updated
15q11q13 microduplication syndrome1Aug 31, 2022
16p13.11 microdeletion syndrome1Aug 31, 2022
16p13.11 microduplication syndrome2Aug 31, 2022
20p12.3 microdeletion syndrome1Aug 31, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Oct 31, 2023
3M syndrome 11Oct 31, 2023
46,XX sex reversal 12Aug 31, 2022
46,XY disorder of sex development1Jul 6, 2021
46,XY ovotesticular disorder of sex development1May 16, 2022
46,XY sex reversal 71Aug 31, 2022
5p partial monosomy syndrome2Aug 31, 2022
7q11.23 microduplication syndrome1Aug 31, 2022
8p inverted duplication/deletion syndrome1Aug 31, 2022
Abnormal pulmonary interstitial morphology1Jan 24, 2022
Acrocephalosyndactyly type I1May 16, 2022
Androgen resistance syndrome5Oct 31, 2023
Anemia1Feb 1, 2022
Angelman syndrome5Aug 31, 2022
Angioosteohypertrophic syndrome3May 16, 2022
Arteriovenous malformation1Jun 17, 2021
Aural atresia, congenital2Aug 31, 2022
Autism2Aug 31, 2022
Autoimmune interstitial lung disease-arthritis syndrome1Oct 31, 2023
Autosomal dominant hyperinsulinism due to SUR1 deficiency1Mar 14, 2022
Beckwith-Wiedemann syndrome1Aug 31, 2022
Blue rubber bleb nevus1May 16, 2022
Bradycardia1Aug 31, 2022
Bronchopulmonary dysplasia of newborn1Feb 1, 2022
Capillary Telangiectasia, Brain1Jun 21, 2021
Capillary infantile hemangioma3May 16, 2022
Capillary malformation2Jan 30, 2024
Capillary malformation-arteriovenous malformation 11Oct 31, 2023
Capillary malformation-arteriovenous malformation 22Oct 31, 2023
Capillary malformation-arteriovenous malformation syndrome1May 16, 2022
Cardiomyopathy1Aug 31, 2022
Cerebral arteriovenous malformation2Jan 30, 2024
Cerebral cavernous malformation3Oct 31, 2023
Cerebral cavernous malformation 21Mar 17, 2022
Childhood hypophosphatasia3Mar 14, 2022
Chromosome 10q23 deletion syndrome1Aug 31, 2022
Chromosome 15q13.3 microdeletion syndrome3Aug 31, 2022
Chromosome 16p11.2 duplication syndrome2Aug 31, 2022
Chromosome 16p13.3 duplication syndrome1Aug 31, 2022
Chromosome 17q11.2 deletion syndrome, 1.4Mb1Aug 31, 2022
Chromosome 17q12 deletion syndrome2Aug 31, 2022
Chromosome 1p36 deletion syndrome3Aug 31, 2022
Chromosome 1p36 deletion syndrome, proximal1Aug 31, 2022
Chromosome 1q21.1 deletion syndrome3Aug 31, 2022
Chromosome 1q21.1 duplication syndrome3Aug 31, 2022
Chromosome 1q41-q42 deletion syndrome1Aug 31, 2022
Chromosome 22q11.2 deletion syndrome, distal1Oct 31, 2023
Chromosome 22q11.2 microduplication syndrome5Aug 31, 2022
Chromosome 2q32-q33 deletion syndrome1Aug 31, 2022
Chromosome 2q37 deletion syndrome2Aug 31, 2022
Chromosome 3q13.31 deletion syndrome1Aug 31, 2022
Chromosome 3q29 microdeletion syndrome1Aug 31, 2022
Chromosome 6q11-q14 deletion syndrome1Aug 31, 2022
Chromosome 9p deletion syndrome4Aug 31, 2022
Chromosome Xp11.22 duplication syndrome1Aug 31, 2022
Chromosome Xq28 duplication syndrome1Aug 31, 2022
Cleidocranial dysostosis1May 16, 2022
Coffin-Siris syndrome 12Aug 31, 2022
Complete trisomy 13 syndrome1Aug 31, 2022
Congenital malabsorptive diarrhea 41Oct 31, 2023
Cowden syndrome1Jan 30, 2024
Cowden syndrome 11Oct 31, 2023
Craniosynostosis 21Oct 31, 2023
Craniosynostosis syndrome2Jul 6, 2021
Crouzon syndrome1Mar 27, 2023
Cyclical vomiting syndrome1Aug 31, 2022
Deficiency of steroid 17-alpha-monooxygenase2Apr 12, 2022
Delayed speech and language development2Aug 31, 2022
Deletion of long arm of chromosome 181Aug 31, 2022
Deletion of short arm of chromosome 182Aug 31, 2022
DiGeorge syndrome7Oct 31, 2023
Diabetes mellitus, transient neonatal, 21Oct 31, 2023
Dilated cardiomyopathy 1DD1Aug 31, 2022
Disorder of lung1Feb 1, 2022
Distal 16p11.2 microdeletion syndrome2Aug 31, 2022
Distal tetrasomy 15q2Aug 31, 2022
Drash syndrome1Oct 31, 2023
Eczematoid dermatitis1Feb 1, 2022
FRAXE1Aug 31, 2022
Familial clubfoot due to 17q23.1q23.2 microduplication1Aug 31, 2022
Familial multiple nevi flammei1Oct 31, 2023
Feeding difficulties1Feb 1, 2022
Gastroesophageal reflux1Feb 1, 2022
Global developmental delay3Aug 31, 2022
Gorham-Stout disease1Mar 27, 2023
Granulomatous disease, chronic, X-linked1Aug 31, 2022
Greig cephalopolysyndactyly syndrome1Aug 31, 2022
Hearing impairment1Aug 31, 2022
Heart, malformation of1Aug 31, 2022
Hereditary hemorrhagic telangiectasia3May 16, 2022
Hereditary liability to pressure palsies1Aug 31, 2022
Hereditary lymphedema type I3Oct 31, 2023
Hermansky-Pudlak syndrome 11Aug 31, 2022
Holoprosencephaly 31Aug 31, 2022
Hunter-McAlpine craniosynostosis1Aug 31, 2022
Hydrocephalus2Aug 31, 2022
Hyperglycemia1Apr 19, 2023
Hyperinsulinism due to HNF1A deficiency2May 16, 2022
Hypoglycemia2Jan 30, 2024
Hypogonadism with anosmia1May 16, 2022
Hypoplastic left heart syndrome 12Aug 31, 2022
Hypotonia1Aug 31, 2022
Immunodeficiency, common variable, 121Aug 31, 2022
Intellectual disability, autosomal dominant 11Aug 31, 2022
Intellectual disability, autosomal dominant 201Aug 31, 2022
Intellectual disability, autosomal dominant 221Aug 31, 2022
Interstitial lung disease due to ABCA3 deficiency2Oct 31, 2023
Intestinal obstruction1Jul 6, 2021
Intestinal pseudo-obstruction1Feb 7, 2022
Juvenile nasopharyngeal angiofibroma1Apr 7, 2022
Koolen-de Vries syndrome1Aug 31, 2022
Lacrimoauriculodentodigital syndrome 31Oct 31, 2023
Lamb-Shaffer syndrome1Aug 31, 2022
Langer-Giedion syndrome1Aug 31, 2022
Lymphatic malformation3Oct 31, 2023
MEGF8-related Carpenter syndrome2Oct 31, 2023
Maturity onset diabetes mellitus in young6Jun 15, 2021
Maturity-onset diabetes of the young type 11Oct 31, 2023
Maturity-onset diabetes of the young type 101Dec 5, 2022
Maturity-onset diabetes of the young type 131Oct 31, 2023
Maturity-onset diabetes of the young type 23Oct 31, 2023
Maturity-onset diabetes of the young type 32Oct 31, 2023
Maturity-onset diabetes of the young type 41Oct 31, 2023
Megacystis, microcolon, hypoperistalsis syndrome1Mar 29, 2022
Megacystis-microcolon-intestinal hypoperistalsis syndrome 11Oct 31, 2023
Megacystis-microcolon-intestinal hypoperistalsis syndrome 54Oct 31, 2023
Micropenis1Mar 14, 2022
Miller Dieker syndrome1Aug 31, 2022
Mosaic trisomy 21Aug 31, 2022
Muenke syndrome1May 16, 2022
Multiple congenital anomalies/dysmorphic syndrome1Aug 31, 2022
Multiple cutaneous and mucosal venous malformations2Oct 31, 2023
Nail-patella syndrome1Aug 31, 2022
Neurodevelopmental delay6Aug 31, 2022
Neurofibromatosis, type 11Aug 31, 2022
Overgrowth syndrome1Jan 30, 2024
PIK3CA related overgrowth syndrome1Mar 28, 2023
PMP22-RAI1 contiguous gene duplication syndrome1Aug 31, 2022
PTEN hamartoma tumor syndrome1May 16, 2022
Parkes Weber syndrome1May 16, 2022
Penoscrotal transposition1Feb 1, 2022
Persistent Mullerian duct syndrome3Oct 31, 2023
Peutz-Jeghers syndrome1Aug 31, 2022
Pfeiffer syndrome1Mar 27, 2023
Phelan-McDermid syndrome2Aug 31, 2022
Phimosis1Feb 1, 2022
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1Oct 31, 2023
Piebaldism1Aug 31, 2022
Polydactyly2Aug 31, 2022
Potocki-Lupski syndrome2Aug 31, 2022
Potocki-Shaffer syndrome1Aug 31, 2022
Prader-Willi syndrome1Aug 31, 2022
Progressive myositis ossificans1May 16, 2022
Proximal 16p11.2 microdeletion syndrome6Aug 31, 2022
Pure gonadal dysgenesis 46,XY2Jan 29, 2024
Respiratory failure2Feb 1, 2022
Rett syndrome3Mar 13, 2023
Ring chromosome 71Aug 31, 2022
Rokitansky sequence1Aug 31, 2022
Saethre-Chotzen syndrome1Aug 31, 2022
See cases13Aug 22, 2022
Seizure3Aug 31, 2022
Septo-optic dysplasia sequence1Oct 31, 2023
Severe combined immunodeficiency disease1Aug 31, 2022
Severe combined immunodeficiency due to DCLRE1C deficiency1Aug 31, 2022
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1Oct 31, 2023
Short stature1Aug 31, 2022
Simpson-Golabi-Behmel syndrome type 11Aug 31, 2022
Smith-Magenis syndrome2Aug 31, 2022
Specific learning disability1Aug 31, 2022
Surfactant metabolism dysfunction, pulmonary, 21Oct 31, 2023
Syndromic X-linked intellectual disability Lubs type1Aug 31, 2022
TWIST1-related craniosynostosis1Oct 31, 2023
Teebi hypertelorism syndrome 11Oct 31, 2023
Telangiectasia, hereditary hemorrhagic, type 13Oct 31, 2023
Telangiectasia, hereditary hemorrhagic, type 51Aug 31, 2022
Tetrasomy 9p1Aug 31, 2022
Trichorhinophalangeal dysplasia type I1Aug 31, 2022
Trisomy 181Aug 31, 2022
Trisomy X syndrome1Aug 31, 2022
Turner syndrome5Aug 31, 2022
Type 2 diabetes mellitus1Mar 17, 2022
Vascular malformation2Jan 30, 2024
Venous malformation2Jul 6, 2021
Verrucous hemangioma1May 16, 2022
Waardenburg syndrome type 11Aug 31, 2022
Williams syndrome10Aug 31, 2022
X-linked ichthyosis with steryl-sulfatase deficiency1Aug 31, 2022
Xq25 microduplication syndrome2Aug 31, 2022
not provided119Apr 26, 2023