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GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002053820.3

Allele description [Variation Report for GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)]

GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)

Genes:
  • HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
  • ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
  • ARID3C:AT-rich interaction domain 3C [Gene - OMIM - HGNC]
  • BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
  • BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
  • CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
  • CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
  • CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
  • C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • CD274:CD274 molecule [Gene - OMIM - HGNC]
  • CD72:CD72 molecule [Gene - OMIM - HGNC]
  • CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
  • DCAF10:DDB1 and CUL4 associated factor 10 [Gene - OMIM - HGNC]
  • DCAF12:DDB1 and CUL4 associated factor 12 [Gene - OMIM - HGNC]
  • DENND4C:DENN domain containing 4C [Gene - HGNC]
  • DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
  • DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
  • DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
  • DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
  • ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
  • FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
  • FANCG:FA complementation group G [Gene - OMIM - HGNC]
  • FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
  • FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • GLIPR2:GLI pathogenesis related 2 [Gene - OMIM - HGNC]
  • GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
  • HAUS6:HAUS augmin like complex subunit 6 [Gene - OMIM - HGNC]
  • IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
  • JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
  • KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
  • KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
  • MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
  • NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
  • PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
  • PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
  • PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
  • RANBP6:RAN binding protein 6 [Gene - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
  • POLR1E:RNA polymerase I subunit E [Gene - HGNC]
  • RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
  • RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
  • RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
  • ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
  • SHB:SH2 domain containing adaptor protein B [Gene - OMIM - HGNC]
  • SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
  • SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
  • SPATA31A1:SPATA31 subfamily A member 1 [Gene - HGNC]
  • SPATA31A3:SPATA31 subfamily A member 3 [Gene - HGNC]
  • SPATA31A5:SPATA31 subfamily A member 5 [Gene - HGNC]
  • SPATA31A6:SPATA31 subfamily A member 6 [Gene - HGNC]
  • SPATA31A7:SPATA31 subfamily A member 7 [Gene - OMIM - HGNC]
  • SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
  • SPATA31G1:SPATA31 subfamily G member 1 [Gene - HGNC]
  • SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
  • TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
  • TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
  • TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
  • ZNG1C:Zn regulated GTPase metalloprotein activator 1C [Gene - OMIM - HGNC]
  • ZNG1E:Zn regulated GTPase metalloprotein activator 1E [Gene - HGNC]
  • ZNG1F:Zn regulated GTPase metalloprotein activator 1F [Gene - HGNC]
  • ABHD17B:abhydrolase domain containing 17B, depalmitoylase [Gene - OMIM - HGNC]
  • ACO1:aconitase 1 [Gene - OMIM - HGNC]
  • AK3:adenylate kinase 3 [Gene - OMIM - HGNC]
  • ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
  • ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
  • ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
  • APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
  • ANKRD18A:ankyrin repeat domain 18A [Gene - OMIM - HGNC]
  • ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
  • ANKRD20A1:ankyrin repeat domain 20 family member A1 [Gene - HGNC]
  • ANXA1:annexin A1 [Gene - OMIM - HGNC]
  • APTX:aprataxin [Gene - OMIM - HGNC]
  • AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
  • AQP7:aquaporin 7 [Gene - OMIM - HGNC]
  • ATOSB:atos homolog B [Gene - OMIM - HGNC]
  • BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
  • B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • BRD10:bromodomain containing 10 [Gene - HGNC]
  • CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
  • CCIN:calicin [Gene - OMIM - HGNC]
  • CA9:carbonic anhydrase 9 [Gene - OMIM - HGNC]
  • CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
  • CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
  • CDC37L1:cell division cycle 37 like 1, HSP90 cochaperone [Gene - OMIM - HGNC]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CNTLN:centlein [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
  • C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
  • C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
  • C9orf85:chromosome 9 open reading frame 85 [Gene - OMIM - HGNC]
  • CFAP95:cilia and flagella associated protein 95 [Gene - HGNC]
  • CIMIP2B:ciliary microtubule inner protein 2B [Gene - HGNC]
  • CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
  • CLTA:clathrin light chain A [Gene - OMIM - HGNC]
  • CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
  • CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
  • CNTNAP3:contactin associated protein family member 3 [Gene - OMIM - HGNC]
  • CNTNAP3B:contactin associated protein family member 3B [Gene - HGNC]
  • CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
  • CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
  • DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
  • DMAC1:distal membrane arm assembly component 1 [Gene - OMIM - HGNC]
  • DMRT1:doublesex and mab-3 related transcription factor 1 [Gene - OMIM - HGNC]
  • DMRT2:doublesex and mab-3 related transcription factor 2 [Gene - OMIM - HGNC]
  • DMRT3:doublesex and mab-3 related transcription factor 3 [Gene - OMIM - HGNC]
  • DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
  • DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
  • ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
  • ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
  • ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
  • EQTN:equatorin [Gene - OMIM - HGNC]
  • EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
  • FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
  • FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
  • FAM27D1:family with sequence similarity 27 member D1 [Gene - HGNC]
  • FOCAD:focadhesin [Gene - OMIM - HGNC]
  • FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
  • FOXD4L3:forkhead box D4 like 3 [Gene - OMIM - HGNC]
  • FOXD4L4:forkhead box D4 like 4 [Gene - OMIM - HGNC]
  • FOXD4L5:forkhead box D4 like 5 [Gene - HGNC]
  • FOXD4L6:forkhead box D4 like 6 [Gene - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
  • GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
  • GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
  • GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
  • HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
  • INSL4:insulin like 4 [Gene - OMIM - HGNC]
  • INSL6:insulin like 6 [Gene - OMIM - HGNC]
  • IGFBPL1:insulin like growth factor binding protein like 1 [Gene - OMIM - HGNC]
  • IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
  • IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
  • IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
  • IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
  • IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
  • IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
  • IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
  • IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
  • IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
  • IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
  • IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
  • IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
  • IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
  • IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
  • IFNE:interferon epsilon [Gene - OMIM - HGNC]
  • IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
  • IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
  • IL33:interleukin 33 [Gene - OMIM - HGNC]
  • IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
  • KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
  • KIF24:kinesin family member 24 [Gene - OMIM - HGNC]
  • LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
  • LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
  • LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
  • LINC00537:long intergenic non-protein coding RNA 537 [Gene - HGNC]
  • KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
  • MELK:maternal embryonic leucine zipper kinase [Gene - OMIM - HGNC]
  • MLANA:melan-A [Gene - OMIM - HGNC]
  • MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
  • MIR101-2:microRNA 101-2 [Gene - OMIM - HGNC]
  • MIR204:microRNA 204 [Gene - OMIM - HGNC]
  • MIR31:microRNA 31 [Gene - OMIM - HGNC]
  • MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
  • MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]
  • NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
  • NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
  • NFIB:nuclear factor I B [Gene - OMIM - HGNC]
  • NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
  • NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
  • NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
  • OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
  • OR2S2:olfactory receptor family 2 subfamily S member 2 [Gene - HGNC]
  • OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
  • PAX5:paired box 5 [Gene - OMIM - HGNC]
  • PLIN2:perilipin 2 [Gene - OMIM - HGNC]
  • PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
  • PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
  • PGM5:phosphoglucomutase 5 [Gene - OMIM - HGNC]
  • PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
  • PLPP6:phospholipid phosphatase 6 [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
  • PLGRKT:plasminogen receptor with a C-terminal lysine [Gene - OMIM - HGNC]
  • KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]
  • PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
  • PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
  • PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
  • PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - HGNC]
  • PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
  • PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
  • PUM3:pumilio RNA binding family member 3 [Gene - OMIM - HGNC]
  • RFX3:regulatory factor X3 [Gene - OMIM - HGNC]
  • RLN1:relaxin 1 [Gene - OMIM - HGNC]
  • RLN2:relaxin 2 [Gene - OMIM - HGNC]
  • RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
  • RFK:riboflavin kinase [Gene - OMIM - HGNC]
  • RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
  • RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
  • RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
  • SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
  • PRSS3:serine protease 3 [Gene - OMIM - HGNC]
  • SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
  • SIT1:signaling threshold regulating transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
  • SLC1A1:solute carrier family 1 member 1 [Gene - OMIM - HGNC]
  • SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
  • SLC25A51:solute carrier family 25 member 51 [Gene - OMIM - HGNC]
  • SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
  • SPMIP6:sperm microtubule inner protein 6 [Gene - OMIM - HGNC]
  • SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
  • SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
  • STOML2:stomatin like 2 [Gene - OMIM - HGNC]
  • SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
  • TRMT10B:tRNA methyltransferase 10B [Gene - HGNC]
  • TLN1:talin 1 [Gene - OMIM - HGNC]
  • TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
  • TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
  • TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
  • TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
  • TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
  • TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
  • TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
  • TMEM215:transmembrane protein 215 [Gene - HGNC]
  • TMEM252:transmembrane protein 252 [Gene - HGNC]
  • TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
  • TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
  • TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
  • TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
  • UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
  • UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
  • UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
  • UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
  • UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
  • VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
  • VCP:valosin containing protein [Gene - OMIM - HGNC]
  • VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
  • ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
  • ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
  • ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
  • ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
  • ZNF658:zinc finger protein 658 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9p24.3-q21.32
Genomic location:
Chr9: 203861 - 84155399 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002320616ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)		Pathogenic
(Mar 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024