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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000349793 SCV000733503 benign Townes-Brocks syndrome 1 no assertion criteria provided 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
Illumina Clinical Services Laboratory,Illumina RCV000349793 SCV000397617 benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242039 SCV000309283 benign not specified criteria provided, single submitter clinical testing

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