Variants studied for Ellis-van Creveld syndrome; Curry-Hall syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
383	168	622	1899	152	3177

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
EVC2	195	87	370	942	71	1636
EVC	161	69	207	876	68	1364
EVC2, LOC126806961	11	6	38	62	11	127
EVC2, LOC126806962	0	1	5	12	0	18
EVC, LOC129992144	5	5	1	6	0	17
EVC, EVC2	9	0	1	1	2	13
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
EVC2, LINC01587, STK32B	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	381	98	613	1892	151	3135
Fulgent Genetics, Fulgent Genetics	23	82	23	8	3	139
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1

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