ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu)

gnomAD frequency: 0.00093  dbSNP: rs201522681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445405 SCV000537031 uncertain significance Monogenic diabetes 2017-03-31 criteria provided, single submitter research ACMG Criteria:PP3, BP4
Fulgent Genetics, Fulgent Genetics RCV000764620 SCV000895728 uncertain significance Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000874074 SCV001016199 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932697 SCV004750173 likely benign RFX6-related condition 2022-02-02 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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