Variants studied for congenital muscular dystrophy with intellectual disability and severe epilepsy

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
8	2	54	43	7	109

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
DPM2	7	2	42	43	6	95
DPM2, LOC130002675	0	0	11	0	1	12
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC126860771, LOC129390114, LOC130002649, LOC130002650, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, TOR2A, TTC16	0	0	1	0	0	1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LRSAM1, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	5	0	30	40	5	80
Illumina Laboratory Services, Illumina	0	0	25	3	4	32
OMIM	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	1	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Genome-Nilou Lab	0	0	0	0	2	2
Baylor Genetics	0	0	1	0	0	1
Precision Medical Center, Wuhan Children's Hospital	0	1	0	0	0	1

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