ClinVar Miner

Submissions for variant NM_001039706.3(CFAP69):c.2562C>G (p.Ser854Arg)

dbSNP: rs7803620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554633 SCV001775900 benign Spermatogenic failure 24 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713062 SCV005266235 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980692 SCV004797804 benign CFAP69-related disorder 2019-10-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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