ClinVar Miner

Submissions for variant NM_001039706.3(CFAP69):c.24G>T (p.Ala8=)

gnomAD frequency: 0.00669  dbSNP: rs149099697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881278 SCV001024436 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000881278 SCV005265684 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758062 SCV005345536 likely benign CFAP69-related disorder 2024-08-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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