ClinVar Miner

Submissions for variant NM_004928.3(CFAP410):c.763G>A (p.Ala255Thr)

gnomAD frequency: 0.00074  dbSNP: rs141195315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658926 SCV000780728 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000658926 SCV001033551 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918101 SCV004734492 likely benign CFAP410-related disorder 2024-09-05 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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