ClinVar Miner

Submissions for variant NM_021254.4(CFAP298):c.199G>A (p.Asp67Asn)

gnomAD frequency: 0.00056  dbSNP: rs76974938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346196 SCV001540376 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758725 SCV005360815 likely benign CFAP298-related disorder 2024-05-12 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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