ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.546C>T (p.Ser182=)

gnomAD frequency: 0.00032  dbSNP: rs200679501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866923 SCV001008092 likely benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413686 SCV004142213 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FANCL: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003908229 SCV004722980 likely benign FANCL-related condition 2019-06-07 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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