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
371	101	530	1836	151	2974

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	191	47	289	918	70	1504
EVC	153	46	209	839	68	1311
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	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: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	371	96	524	1829	150	2970
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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