ClinVar Miner

Variants in gene CFAP69

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
4 2 73 18 14 109

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 72 8 0 80
not provided 0 0 3 2 13 18
CFAP69-related disorder 0 0 0 8 8 16
Spermatogenic failure 24 4 0 0 0 5 9
Non-syndromic male infertility due to sperm motility disorder 0 1 0 0 0 1
Susceptibility to severe COVID-19 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 72 8 0 80
PreventionGenetics, part of Exact Sciences 0 0 0 8 8 16
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 12 12
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 8 9
Genome-Nilou Lab 0 0 0 0 5 5
OMIM 4 0 0 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 3 1 0 4
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1

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