ClinVar Miner

Variants studied for epilepsy, familial adult myoclonic, 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
25 11 328 407 34 795

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNTN2 22 11 302 378 30 733
CNTN2, LOC126805985 3 0 25 29 4 61
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, CACNA1S, CAMSAP2, CDK18, CHI3L1, CHIT1, CNTN2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PHLDA3, PIK3C2B, PKP1, PLEKHA6, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, ZBED6, ZC3H11A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 22 10 315 405 33 785
Fulgent Genetics, Fulgent Genetics 0 0 4 3 1 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Baylor Genetics 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Revvity Omics, Revvity 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 0 0 0 1

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