ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)

dbSNP: rs113614842
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403758 SCV000335146 benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393511 SCV000397647 uncertain significance Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000872954 SCV001014860 benign Townes syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001712032 SCV001946699 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000403758 SCV001740559 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000403758 SCV001930361 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000403758 SCV001963640 benign not specified no assertion criteria provided clinical testing

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