ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2055A>G (p.Ala685=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004752188 SCV005350287 likely benign SALL1-related disorder 2024-07-18 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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