ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)

gnomAD frequency: 0.00106  dbSNP: rs143818932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725906 SCV000340416 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000725906 SCV000616860 likely benign not provided 2019-08-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001087456 SCV001012032 likely benign Duane-radial ray syndrome 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725906 SCV004154728 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SALL4: BS1
PreventionGenetics, part of Exact Sciences RCV004535374 SCV004752336 likely benign SALL4-related disorder 2021-02-23 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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