ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr)

dbSNP: rs2143444614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001533179 SCV001746623 uncertain significance Townes-Brocks syndrome 1 2021-01-04 criteria provided, single submitter clinical testing

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