ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2166A>G (p.Leu722=)

gnomAD frequency: 0.00110  dbSNP: rs141708963
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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 RCV000905570 SCV001050158 benign Duane-radial ray syndrome 2024-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502692 SCV002802264 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541917 SCV004766614 likely benign SALL4-related disorder 2019-07-10 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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