Variants studied for Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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)

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
129	35	2276	1907	227	4574

Gene and significance breakdown #

Total genes and gene combinations: 9

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SYNE1	121	34	2171	1801	214	4341
LOC126859837, SYNE1	3	1	40	41	3	88
LOC129997480, SYNE1	1	0	21	22	2	46
ESR1, SYNE1	0	0	23	17	4	44
LOC126859838, SYNE1	1	0	14	19	0	34
LOC126859836, SYNE1	1	0	6	7	4	18
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP	1	0	0	0	0	1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1	0	0	1	0	0	1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP	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
Labcorp Genetics (formerly Invitae), Labcorp	129	35	2273	1907	227	4571
Fulgent Genetics, Fulgent Genetics	1	0	13	0	0	14
New York Genome Center	0	0	1	0	0	1

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