ClinVar Miner

Variants studied for Ellis-van Creveld syndrome; Curry-Hall 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
357 96 527 1836 151 2952

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC2 184 45 287 918 70 1493
EVC 151 43 209 839 68 1306
EVC2, LOC126806961 11 3 27 60 11 112
EVC, LOC129992144 5 4 1 6 0 16
EVC2, LOC126806962 0 1 3 12 0 16
EVC, EVC2 5 0 0 1 2 8
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 357 91 521 1829 150 2948
Fulgent Genetics, Fulgent Genetics 12 9 17 8 3 49
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1

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