ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2129del (p.Ile710fs)

dbSNP: rs2143442678
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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, Cologne University RCV002274276 SCV002558832 likely pathogenic Townes-Brocks syndrome 1 2022-08-02 criteria provided, single submitter clinical testing

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