ClinVar Miner

Submissions for variant NM_001164496.2(CFAP44):c.5418A>G (p.Arg1806=)

gnomAD frequency: 0.00184  dbSNP: rs369806513
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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 RCV000890442 SCV001034188 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000890442 SCV005300695 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003957939 SCV004770275 likely benign CFAP44-related disorder 2019-02-21 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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