Variants studied for Congenital dyserythropoietic anemia, type II; Cowden syndrome 7

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
64	28	63	353	35	534

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
SEC23B	50	25	58	307	28	459
LOC126862987, SEC23B	13	3	4	46	7	73
BANF2, DZANK1, KAT14, MGME1, OVOL2, PET117, POLR3F, RBBP9, RRBP1, SEC23B, SNX5, ZNF133	1	0	0	0	0	1
POLR3F, RBBP9, SEC23B	0	0	1	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	64	18	63	351	35	531
Fulgent Genetics, Fulgent Genetics	8	13	0	2	0	23

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