Variants in gene CFAP251

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
6	4	99	26	12	143

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	0	0	94	5	2	101
CFAP251-related disorder	1	0	0	15	8	24
not provided	0	0	4	9	4	17
Spermatogenic failure 33	5	4	1	0	0	9
Non-syndromic male infertility due to sperm motility disorder; Male infertility with teratozoospermia due to single gene mutation	2	0	0	0	0	2
multiple morphologic abnormalities of the sperm flagellum; Reduced sperm motility; dysplasia of the mitochondrial sheath	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	94	5	0	99
PreventionGenetics, part of Exact Sciences	1	0	0	15	8	24
CeGaT Center for Human Genetics Tuebingen	0	0	2	8	1	11
Department of Pathology and Laboratory Medicine, Sinai Health System	0	4	3	0	0	7
OMIM	3	0	0	0	0	3
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm	3	0	0	0	0	3
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	3	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	2	0	0	0	0	2
GeneDx	0	0	0	0	1	1
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	1	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	1	0	0	0	0	1

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