ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3823G>A (p.Val1275Ile) (rs4614723)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242039 SCV000309283 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349793 SCV000397617 benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000349793 SCV000743743 benign Townes-Brocks syndrome 1 2017-06-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000349793 SCV000733503 benign Townes-Brocks syndrome 1 no assertion criteria provided clinical testing

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