ClinVar Miner

Variants studied for ACD-related telomere biology disorder

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
4 3 434 270 17 4 726

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 not provided total
ACD 4 2 370 246 17 4 638
ACD, LOC130059224 0 1 63 24 0 0 87
AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATXN1L, B3GNT9, BEAN1, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH16, CDH3, CDH5, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, COG4, COG8, CTCF, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, DYNC1LI2, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, GFOD2, HAS3, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LOC400541, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR328, MTSS2, NAE1, NFAT5, NFATC3, NIP7, NOB1, NOL3, NQO1, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PRMT7, PSKH1, PSMB10, RANBP10, RIPOR1, RRAD, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNTB2, ST3GAL2, TANGO6, TAT, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TSNAXIP1, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF19, ZNF23, ZNF821 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 431 269 17 0 718
Genome-Nilou Lab 0 0 0 0 11 0 11
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
GeneReviews 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1

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