ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) (rs1597228568)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000995629 SCV001149911 pathogenic Townes-Brocks syndrome 1 2018-08-10 criteria provided, single submitter clinical testing

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