ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1113C>G (p.Val371=)

gnomAD frequency: 0.00023  dbSNP: rs77810153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953835 SCV001100426 benign Duane-radial ray syndrome 2024-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544633 SCV004773883 likely benign SALL4-related disorder 2021-03-08 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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