ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile)

dbSNP: rs148931484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001002753 SCV000992393 likely benign not specified criteria provided, single submitter case-control
Fulgent Genetics, Fulgent Genetics RCV002478943 SCV002795775 likely benign Townes-Brocks syndrome 1 2021-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751754 SCV005348477 likely benign SALL1-related disorder 2024-03-08 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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