ClinVar Miner

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

dbSNP: rs148931484
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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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

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