ClinVar Miner

Submissions for variant NM_032930.3(CFAP300):c.16C>T (p.Leu6Phe)

gnomAD frequency: 0.00151  dbSNP: rs184947491
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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 RCV002239016 SCV002509353 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933702 SCV004747602 likely benign CFAP300-related disorder 2022-06-03 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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