Variants studied for Joubert syndrome 20; Meckel syndrome, type 11

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
38	16	204	150	17	415

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TMEM231	32	15	195	144	16	392
LOC130059440, TMEM231	3	1	8	6	1	19
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231	1	0	1	0	0	2
CHST5, CHST6, TMEM170A, TMEM231	1	0	0	0	0	1
CHST5, CHST6, TMEM231	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	38	7	161	149	17	372
Fulgent Genetics, Fulgent Genetics	4	10	73	1	0	88
New York Genome Center	0	0	1	0	0	1

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