ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.2574C>T (p.Leu858=) (rs1965024)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242992 SCV000309277 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242992 SCV000338002 benign not specified 2015-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391169 SCV000397627 benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000391169 SCV000743744 benign Townes-Brocks syndrome 1 2017-06-21 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000391169 SCV000745147 benign Townes-Brocks syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000391169 SCV000733504 benign Townes-Brocks syndrome 1 no assertion criteria provided clinical testing

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