ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)

gnomAD frequency: 0.00031  dbSNP: rs150402866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289887 SCV000340846 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521965 SCV003262250 likely benign Duane-radial ray syndrome 2024-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543096 SCV004760378 likely benign SALL4-related disorder 2023-04-24 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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