Variants studied for Joubert syndrome; Meckel-Gruber 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)

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
717	234	2017	3292	188	6448

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CC2D2A	208	61	528	994	42	1833
RPGRIP1L	217	57	483	818	44	1619
TMEM67	127	50	305	481	29	992
MKS1	87	32	226	441	16	802
TCTN2	32	17	220	247	25	541
TCTN1	28	13	145	170	15	371
B9D1	6	3	58	79	6	152
LOC130061271, MKS1	7	0	20	24	0	51
B9D2	1	0	16	24	8	49
B9D1, LOC130060455	1	0	10	10	1	22
LOC130008755, TCTN1	0	0	0	4	1	5
B9D2, TGFB1	0	0	1	0	1	2
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2	0	0	1	0	0	1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B	0	0	1	0	0	1
ATP6V0A2, TCTN2	1	0	0	0	0	1
BST1, CC2D2A, CD38, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1, ZBED11	0	0	1	0	0	1
CSPP1	0	1	0	0	0	1
EIF2B1, GTF2H3, TCTN2	0	0	1	0	0	1
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L	1	0	0	0	0	1
FTO, IRX3, IRX5, RPGRIP1L	0	0	1	0	0	1
PDP1, TMEM67	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	717	233	2017	3292	188	6447
Clinical Genomics Laboratory, Stanford Medicine	0	1	0	0	0	1

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