ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.2310C>T (p.Ile770=) (rs61740811)

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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 RCV000253246 SCV000309274 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367560 SCV000397632 benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537361 SCV000630906 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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