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GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000052564.6

Allele description [Variation Report for GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1]

GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1

Genes:
  • LOC110599572:-8 kb enhancer of CYP2C8 [Gene]
  • HOGA1:4-hydroxy-2-oxoglutarate aldolase 1 [Gene - OMIM - HGNC]
  • ARHGAP19-SLIT1:ARHGAP19-SLIT1 readthrough (NMD candidate) [Gene - HGNC]
  • LOC130004362:ATAC-STARR-seq lymphoblastoid active region 3775 [Gene]
  • LOC130004363:ATAC-STARR-seq lymphoblastoid active region 3776 [Gene]
  • LOC130004364:ATAC-STARR-seq lymphoblastoid active region 3777 [Gene]
  • LOC130004366:ATAC-STARR-seq lymphoblastoid active region 3778 [Gene]
  • LOC130004369:ATAC-STARR-seq lymphoblastoid active region 3780 [Gene]
  • LOC130004370:ATAC-STARR-seq lymphoblastoid active region 3781 [Gene]
  • LOC130004371:ATAC-STARR-seq lymphoblastoid active region 3782 [Gene]
  • LOC130004372:ATAC-STARR-seq lymphoblastoid active region 3783 [Gene]
  • LOC130004373:ATAC-STARR-seq lymphoblastoid active region 3784 [Gene]
  • LOC130004374:ATAC-STARR-seq lymphoblastoid active region 3785 [Gene]
  • LOC130004378:ATAC-STARR-seq lymphoblastoid active region 3786 [Gene]
  • LOC130004382:ATAC-STARR-seq lymphoblastoid active region 3787 [Gene]
  • LOC130004383:ATAC-STARR-seq lymphoblastoid active region 3788 [Gene]
  • LOC130004385:ATAC-STARR-seq lymphoblastoid active region 3789 [Gene]
  • LOC130004388:ATAC-STARR-seq lymphoblastoid active region 3790 [Gene]
  • LOC130004392:ATAC-STARR-seq lymphoblastoid active region 3792 [Gene]
  • LOC130004393:ATAC-STARR-seq lymphoblastoid active region 3793 [Gene]
  • LOC130004394:ATAC-STARR-seq lymphoblastoid active region 3794 [Gene]
  • LOC130004400:ATAC-STARR-seq lymphoblastoid active region 3795 [Gene]
  • LOC130004401:ATAC-STARR-seq lymphoblastoid active region 3797 [Gene]
  • LOC130004402:ATAC-STARR-seq lymphoblastoid active region 3798 [Gene]
  • LOC130004403:ATAC-STARR-seq lymphoblastoid active region 3799 [Gene]
  • LOC130004406:ATAC-STARR-seq lymphoblastoid active region 3800 [Gene]
  • LOC130004408:ATAC-STARR-seq lymphoblastoid active region 3801 [Gene]
  • LOC130004409:ATAC-STARR-seq lymphoblastoid active region 3802 [Gene]
  • LOC130004410:ATAC-STARR-seq lymphoblastoid active region 3803 [Gene]
  • LOC130004411:ATAC-STARR-seq lymphoblastoid active region 3804 [Gene]
  • LOC130004413:ATAC-STARR-seq lymphoblastoid active region 3805 [Gene]
  • LOC130004415:ATAC-STARR-seq lymphoblastoid active region 3806 [Gene]
  • LOC130004416:ATAC-STARR-seq lymphoblastoid active region 3807 [Gene]
  • LOC130004417:ATAC-STARR-seq lymphoblastoid active region 3808 [Gene]
  • LOC130004418:ATAC-STARR-seq lymphoblastoid active region 3809 [Gene]
  • LOC130004419:ATAC-STARR-seq lymphoblastoid active region 3810 [Gene]
  • LOC130004420:ATAC-STARR-seq lymphoblastoid active region 3811 [Gene]
  • LOC130004421:ATAC-STARR-seq lymphoblastoid active region 3813 [Gene]
  • LOC130004422:ATAC-STARR-seq lymphoblastoid active region 3814 [Gene]
  • LOC130004424:ATAC-STARR-seq lymphoblastoid active region 3815 [Gene]
  • LOC130004425:ATAC-STARR-seq lymphoblastoid active region 3816 [Gene]
  • LOC130004426:ATAC-STARR-seq lymphoblastoid active region 3818 [Gene]
  • LOC130004427:ATAC-STARR-seq lymphoblastoid active region 3820 [Gene]
  • LOC130004428:ATAC-STARR-seq lymphoblastoid active region 3821 [Gene]
  • LOC130004429:ATAC-STARR-seq lymphoblastoid active region 3822 [Gene]
  • LOC130004430:ATAC-STARR-seq lymphoblastoid active region 3823 [Gene]
  • LOC130004431:ATAC-STARR-seq lymphoblastoid active region 3824 [Gene]
  • LOC130004432:ATAC-STARR-seq lymphoblastoid active region 3825 [Gene]
  • LOC130004433:ATAC-STARR-seq lymphoblastoid active region 3826 [Gene]
  • LOC130004435:ATAC-STARR-seq lymphoblastoid active region 3827 [Gene]
  • LOC130004437:ATAC-STARR-seq lymphoblastoid active region 3828 [Gene]
  • LOC130004439:ATAC-STARR-seq lymphoblastoid active region 3829 [Gene]
  • LOC130004440:ATAC-STARR-seq lymphoblastoid active region 3830 [Gene]
  • LOC130004441:ATAC-STARR-seq lymphoblastoid active region 3831 [Gene]
  • LOC130004443:ATAC-STARR-seq lymphoblastoid active region 3832 [Gene]
  • LOC130004444:ATAC-STARR-seq lymphoblastoid active region 3833 [Gene]
  • LOC130004445:ATAC-STARR-seq lymphoblastoid active region 3834 [Gene]
  • LOC130004447:ATAC-STARR-seq lymphoblastoid active region 3836 [Gene]
  • LOC130004448:ATAC-STARR-seq lymphoblastoid active region 3837 [Gene]
  • LOC130004449:ATAC-STARR-seq lymphoblastoid active region 3838 [Gene]
  • LOC130004452:ATAC-STARR-seq lymphoblastoid active region 3839 [Gene]
  • LOC130004453:ATAC-STARR-seq lymphoblastoid active region 3840 [Gene]
  • LOC130004454:ATAC-STARR-seq lymphoblastoid active region 3841 [Gene]
  • LOC130004455:ATAC-STARR-seq lymphoblastoid active region 3842 [Gene]
  • LOC130004458:ATAC-STARR-seq lymphoblastoid active region 3844 [Gene]
  • LOC130004459:ATAC-STARR-seq lymphoblastoid active region 3845 [Gene]
  • LOC130004461:ATAC-STARR-seq lymphoblastoid active region 3846 [Gene]
  • LOC130004464:ATAC-STARR-seq lymphoblastoid active region 3847 [Gene]
  • LOC130004465:ATAC-STARR-seq lymphoblastoid active region 3848 [Gene]
  • LOC130004469:ATAC-STARR-seq lymphoblastoid active region 3849 [Gene]
  • LOC130004470:ATAC-STARR-seq lymphoblastoid active region 3850 [Gene]
  • LOC130004472:ATAC-STARR-seq lymphoblastoid active region 3852 [Gene]
  • LOC130004476:ATAC-STARR-seq lymphoblastoid active region 3853 [Gene]
  • LOC130004477:ATAC-STARR-seq lymphoblastoid active region 3854 [Gene]
  • LOC130004479:ATAC-STARR-seq lymphoblastoid active region 3855 [Gene]
  • LOC130004480:ATAC-STARR-seq lymphoblastoid active region 3856 [Gene]
  • LOC130004481:ATAC-STARR-seq lymphoblastoid active region 3857 [Gene]
  • LOC130004482:ATAC-STARR-seq lymphoblastoid active region 3858 [Gene]
  • LOC130004484:ATAC-STARR-seq lymphoblastoid active region 3859 [Gene]
  • LOC130004358:ATAC-STARR-seq lymphoblastoid silent region 2620 [Gene]
  • LOC130004359:ATAC-STARR-seq lymphoblastoid silent region 2621 [Gene]
  • LOC130004360:ATAC-STARR-seq lymphoblastoid silent region 2622 [Gene]
  • LOC130004361:ATAC-STARR-seq lymphoblastoid silent region 2623 [Gene]
  • LOC130004365:ATAC-STARR-seq lymphoblastoid silent region 2624 [Gene]
  • LOC130004367:ATAC-STARR-seq lymphoblastoid silent region 2625 [Gene]
  • LOC130004368:ATAC-STARR-seq lymphoblastoid silent region 2626 [Gene]
  • LOC130004375:ATAC-STARR-seq lymphoblastoid silent region 2627 [Gene]
  • LOC130004376:ATAC-STARR-seq lymphoblastoid silent region 2628 [Gene]
  • LOC130004377:ATAC-STARR-seq lymphoblastoid silent region 2629 [Gene]
  • LOC130004379:ATAC-STARR-seq lymphoblastoid silent region 2630 [Gene]
  • LOC130004380:ATAC-STARR-seq lymphoblastoid silent region 2631 [Gene]
  • LOC130004381:ATAC-STARR-seq lymphoblastoid silent region 2632 [Gene]
  • LOC130004384:ATAC-STARR-seq lymphoblastoid silent region 2633 [Gene]
  • LOC130004386:ATAC-STARR-seq lymphoblastoid silent region 2634 [Gene]
  • LOC130004387:ATAC-STARR-seq lymphoblastoid silent region 2635 [Gene]
  • LOC130004389:ATAC-STARR-seq lymphoblastoid silent region 2637 [Gene]
  • LOC130004390:ATAC-STARR-seq lymphoblastoid silent region 2638 [Gene]
  • LOC130004391:ATAC-STARR-seq lymphoblastoid silent region 2639 [Gene]
  • LOC130004395:ATAC-STARR-seq lymphoblastoid silent region 2640 [Gene]
  • LOC130004396:ATAC-STARR-seq lymphoblastoid silent region 2641 [Gene]
  • LOC130004397:ATAC-STARR-seq lymphoblastoid silent region 2642 [Gene]
  • LOC130004398:ATAC-STARR-seq lymphoblastoid silent region 2643 [Gene]
  • LOC130004399:ATAC-STARR-seq lymphoblastoid silent region 2644 [Gene]
  • LOC130004404:ATAC-STARR-seq lymphoblastoid silent region 2645 [Gene]
  • LOC130004405:ATAC-STARR-seq lymphoblastoid silent region 2646 [Gene]
  • LOC130004407:ATAC-STARR-seq lymphoblastoid silent region 2649 [Gene]
  • LOC130004412:ATAC-STARR-seq lymphoblastoid silent region 2650 [Gene]
  • LOC130004414:ATAC-STARR-seq lymphoblastoid silent region 2651 [Gene]
  • LOC130004423:ATAC-STARR-seq lymphoblastoid silent region 2652 [Gene]
  • LOC130004434:ATAC-STARR-seq lymphoblastoid silent region 2653 [Gene]
  • LOC130004436:ATAC-STARR-seq lymphoblastoid silent region 2654 [Gene]
  • LOC130004438:ATAC-STARR-seq lymphoblastoid silent region 2655 [Gene]
  • LOC130004442:ATAC-STARR-seq lymphoblastoid silent region 2656 [Gene]
  • LOC130004446:ATAC-STARR-seq lymphoblastoid silent region 2657 [Gene]
  • LOC130004450:ATAC-STARR-seq lymphoblastoid silent region 2658 [Gene]
  • LOC130004451:ATAC-STARR-seq lymphoblastoid silent region 2659 [Gene]
  • LOC130004456:ATAC-STARR-seq lymphoblastoid silent region 2660 [Gene]
  • LOC130004457:ATAC-STARR-seq lymphoblastoid silent region 2666 [Gene]
  • LOC130004460:ATAC-STARR-seq lymphoblastoid silent region 2667 [Gene]
  • LOC130004462:ATAC-STARR-seq lymphoblastoid silent region 2668 [Gene]
  • LOC130004463:ATAC-STARR-seq lymphoblastoid silent region 2671 [Gene]
  • LOC130004466:ATAC-STARR-seq lymphoblastoid silent region 2674 [Gene]
  • LOC130004467:ATAC-STARR-seq lymphoblastoid silent region 2675 [Gene]
  • LOC130004468:ATAC-STARR-seq lymphoblastoid silent region 2676 [Gene]
  • LOC130004471:ATAC-STARR-seq lymphoblastoid silent region 2677 [Gene]
  • LOC130004473:ATAC-STARR-seq lymphoblastoid silent region 2679 [Gene]
  • LOC130004474:ATAC-STARR-seq lymphoblastoid silent region 2680 [Gene]
  • LOC130004475:ATAC-STARR-seq lymphoblastoid silent region 2682 [Gene]
  • LOC130004478:ATAC-STARR-seq lymphoblastoid silent region 2683 [Gene]
  • LOC130004483:ATAC-STARR-seq lymphoblastoid silent region 2685 [Gene]
  • LOC130004485:ATAC-STARR-seq lymphoblastoid silent region 2686 [Gene]
  • BLNK:B cell linker [Gene - OMIM - HGNC]
  • LOC121366074:BRD4-independent group 4 enhancer GRCh37_chr10:95196661-95197860 [Gene]
  • LOC126861003:BRD4-independent group 4 enhancer GRCh37_chr10:96702730-96703929 [Gene]
  • LOC126861007:BRD4-independent group 4 enhancer GRCh37_chr10:98829552-98830751 [Gene]
  • LOC126861009:BRD4-independent group 4 enhancer GRCh37_chr10:99446822-99448021 [Gene]
  • LOC126861000:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:95093669-95094868 [Gene]
  • LOC126861005:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:97786197-97787396 [Gene]
  • LOC116216118:CRISPRi-validated cis-regulatory element chr10.3436 [Gene]
  • LOC116216119:CRISPRi-validated cis-regulatory element chr10.3525 [Gene]
  • LOC110599570:CYP2C19 promoter [Gene]
  • LOC110599571:CYP2C8 promoter [Gene]
  • LOC110599569:CYP2C9 promoter [Gene]
  • DNTT:DNA nucleotidylexotransferase [Gene - OMIM - HGNC]
  • ENTPD1-AS1:ENTPD1 antisense RNA 1 [Gene - HGNC]
  • FRA10AC1:FRA10A associated CGG repeat 1 [Gene - OMIM - HGNC]
  • FRAT1:FRAT regulator of WNT signaling pathway 1 [Gene - OMIM - HGNC]
  • FRAT2:FRAT regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • MARVELD1:MARVEL domain containing 1 [Gene - OMIM - HGNC]
  • LOC126860998:MED14-independent group 3 enhancer GRCh37_chr10:94897634-94898833 [Gene]
  • LOC126861001:MED14-independent group 3 enhancer GRCh37_chr10:95686691-95687890 [Gene]
  • LOC126861002:MED14-independent group 3 enhancer GRCh37_chr10:96140095-96141294 [Gene]
  • LOC126861008:MED14-independent group 3 enhancer GRCh37_chr10:99411103-99412302 [Gene]
  • MMS19:MMS19 homolog, cytosolic iron-sulfur assembly component [Gene - OMIM - HGNC]
  • MORN4:MORN repeat containing 4 [Gene - OMIM - HGNC]
  • LOC129390215:MPRA-validated peak1050 silencer [Gene]
  • LOC129390216:MPRA-validated peak1052 silencer [Gene]
  • LOC129390217:MPRA-validated peak1056 silencer [Gene]
  • LOC129390218:MPRA-validated peak1059 silencer [Gene]
  • LOC129390219:MPRA-validated peak1061 silencer [Gene]
  • NOC3L:NOC3 like DNA replication regulator [Gene - OMIM - HGNC]
  • LOC107195252:NUP98-HHEX recombination region [Gene]
  • LOC126860999:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:95048576-95049775 [Gene]
  • LOC126861004:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:96750996-96752195 [Gene]
  • LOC126861006:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:98026632-98027831 [Gene]
  • PDLIM1:PDZ and LIM domain 1 [Gene - OMIM - HGNC]
  • PLCE1-AS1:PLCE1 antisense RNA 1 [Gene - HGNC]
  • PLCE1-AS2:PLCE1 antisense RNA 2 [Gene - HGNC]
  • ARHGAP19:Rho GTPase activating protein 19 [Gene - OMIM - HGNC]
  • SLIT1-AS1:SLIT1 antisense RNA 1 [Gene - HGNC]
  • LOC121815959:Sharpr-MPRA regulatory region 10262 [Gene]
  • LOC124416873:Sharpr-MPRA regulatory region 10569 [Gene]
  • LOC121815956:Sharpr-MPRA regulatory region 10607 [Gene]
  • LOC124416879:Sharpr-MPRA regulatory region 11334 [Gene]
  • LOC111982884:Sharpr-MPRA regulatory region 12220 [Gene]
  • LOC124416875:Sharpr-MPRA regulatory region 13404 [Gene]
  • LOC124416874:Sharpr-MPRA regulatory region 13709 [Gene]
  • LOC124416878:Sharpr-MPRA regulatory region 14301 [Gene]
  • LOC124416870:Sharpr-MPRA regulatory region 1522 [Gene]
  • LOC124416868:Sharpr-MPRA regulatory region 15544 [Gene]
  • LOC111982882:Sharpr-MPRA regulatory region 2936 [Gene]
  • LOC124416871:Sharpr-MPRA regulatory region 3496 [Gene]
  • LOC124416876:Sharpr-MPRA regulatory region 3512 [Gene]
  • LOC121815957:Sharpr-MPRA regulatory region 3565 [Gene]
  • LOC121815958:Sharpr-MPRA regulatory region 3716 [Gene]
  • LOC121815955:Sharpr-MPRA regulatory region 4238 [Gene]
  • LOC111982885:Sharpr-MPRA regulatory region 4280 [Gene]
  • LOC124416869:Sharpr-MPRA regulatory region 5548 [Gene]
  • LOC111982883:Sharpr-MPRA regulatory region 568 [Gene]
  • LOC124416877:Sharpr-MPRA regulatory region 6385 [Gene]
  • LOC121366075:Sharpr-MPRA regulatory region 7927 [Gene]
  • LOC124416872:Sharpr-MPRA regulatory region 8644 [Gene]
  • LOC111982881:Sharpr-MPRA regulatory region 9306 [Gene]
  • LOC121366073:Sharpr-MPRA regulatory region 9432 [Gene]
  • TBC1D12:TBC1 domain family member 12 [Gene - OMIM - HGNC]
  • LOC110121455:VISTA enhancer hs1866 [Gene]
  • LOC110121505:VISTA enhancer hs2353 [Gene]
  • ACSM6:acyl-CoA synthetase medium chain family member 6 [Gene - HGNC]
  • ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]
  • ANKRD2:ankyrin repeat domain 2 [Gene - OMIM - HGNC]
  • AVPI1:arginine vasopressin induced 1 [Gene - OMIM - HGNC]
  • CEP55:centrosomal protein 55 [Gene - OMIM - HGNC]
  • C10orf12:chromosome 10 open reading frame 12 [Gene - HGNC]
  • C10orf131:chromosome 10 open reading frame 131 [Gene - HGNC]
  • C10orf62:chromosome 10 open reading frame 62 [Gene - HGNC]
  • CC2D2B:coiled-coil and C2 domain containing 2B [Gene - HGNC]
  • CCNJ:cyclin J [Gene - OMIM - HGNC]
  • CYP2C18:cytochrome P450 family 2 subfamily C member 18 [Gene - OMIM - HGNC]
  • CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
  • CYP2C8:cytochrome P450 family 2 subfamily C member 8 [Gene - OMIM - HGNC]
  • CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
  • CYP26A1:cytochrome P450 family 26 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP26C1:cytochrome P450 family 26 subfamily C member 1 [Gene - OMIM - HGNC]
  • ENTPD1:ectonucleoside triphosphate diphosphohydrolase 1 [Gene - OMIM - HGNC]
  • EXOC6:exocyst complex component 6 [Gene - OMIM - HGNC]
  • EXOSC1:exosome component 1 [Gene - OMIM - HGNC]
  • FRA10A:fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) [Gene - OMIM - HGNC]
  • FFAR4:free fatty acid receptor 4 [Gene - OMIM - HGNC]
  • HELLS:helicase, lymphoid specific [Gene - OMIM - HGNC]
  • HHEX:hematopoietically expressed homeobox [Gene - OMIM - HGNC]
  • KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
  • LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]
  • LCOR:ligand dependent nuclear receptor corepressor [Gene - OMIM - HGNC]
  • MIR3157:microRNA 3157 [Gene - HGNC]
  • MIR607:microRNA 607 [Gene - HGNC]
  • MYOF:myoferlin [Gene - OMIM - HGNC]
  • OPALIN:oligodendrocytic myelin paranodal and inner loop protein [Gene - OMIM - HGNC]
  • PI4K2A:phosphatidylinositol 4-kinase type 2 alpha [Gene - OMIM - HGNC]
  • PDE6C:phosphodiesterase 6C [Gene - OMIM - HGNC]
  • PGAM1:phosphoglycerate mutase 1 [Gene - OMIM - HGNC]
  • PIK3AP1:phosphoinositide-3-kinase adaptor protein 1 [Gene - OMIM - HGNC]
  • PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
  • RBP4:retinol binding protein 4 [Gene - OMIM - HGNC]
  • RRP12:ribosomal RNA processing 12 homolog [Gene - OMIM - HGNC]
  • SLIT1:slit guidance ligand 1 [Gene - OMIM - HGNC]
  • SLC35G1:solute carrier family 35 member G1 [Gene - OMIM - HGNC]
  • SORBS1:sorbin and SH3 domain containing 1 [Gene - OMIM - HGNC]
  • TCTN3:tectonic family member 3 [Gene - OMIM - HGNC]
  • TLL2:tolloid like 2 [Gene - OMIM - HGNC]
  • TM9SF3:transmembrane 9 superfamily member 3 [Gene - OMIM - HGNC]
  • UBTD1:ubiquitin domain containing 1 [Gene - OMIM - HGNC]
  • LOC102723665:uncharacterized LOC102723665 [Gene]
  • LOC105378448:uncharacterized LOC105378448 [Gene]
  • LOC644215:uncharacterized LOC644215 [Gene]
  • ZDHHC16:zinc finger DHHC-type palmitoyltransferase 16 [Gene - OMIM - HGNC]
  • ZFYVE27:zinc finger FYVE-type containing 27 [Gene - OMIM - HGNC]
  • ZNF518A:zinc finger protein 518A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q23.33-24.2
Genomic location:
Preferred name:
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1
HGVS:
  • NC_000010.11:g.(?_92626680)_(97755102_?)del
  • NC_000010.10:g.(?_94386437)_(99514859_?)del
  • NC_000010.9:g.(?_94376417)_(99504849_?)del
Links:
dbVar: nssv577306; dbVar: nsv531277
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079918GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000079918.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023