ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)

gnomAD frequency: 0.00006  dbSNP: rs577253174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864580 SCV001005400 benign Fanconi anemia 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311755 SCV001502054 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FANCF: BP4, BS2
GeneDx RCV001311755 SCV001767649 uncertain significance not provided 2020-10-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences RCV003908201 SCV004726860 likely benign FANCF-related condition 2023-02-16 criteria provided, single submitter 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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