ClinVar Miner

Variants studied for Shprintzen-Goldberg syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
19 6 94 39 17 169

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SKI 14 6 92 39 17 162
KIFBP 5 0 0 0 0 5
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 1
LOC112577524, SKI 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 2 88 39 17 149
OMIM 15 0 0 0 0 15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 9 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

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