ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.448_450AGC[11] (p.Ser159dup) (rs113614842)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000612233 SCV000745148 benign Townes-Brocks syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612233 SCV000733505 benign Townes-Brocks syndrome 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251431 SCV000227286 likely benign not specified 2014-11-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000612233 SCV000743745 benign Townes-Brocks syndrome 1 2016-05-20 criteria provided, single submitter clinical testing
Invitae RCV000552954 SCV000630913 benign Townes syndrome 2017-02-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251431 SCV000309288 benign not specified criteria provided, single submitter clinical testing

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