ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu) (rs146454164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244926 SCV000309272 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389616 SCV000397635 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000864308 SCV001005095 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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