ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) (rs74499562)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202832 SCV000257792 benign not specified 2014-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202832 SCV000309284 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000540322 SCV000630912 benign Townes syndrome 2020-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000292562 SCV000743742 benign Townes-Brocks syndrome 1 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000292562 SCV000745146 benign Townes-Brocks syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992805 SCV001145358 benign not provided 2019-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000992805 SCV001848730 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000992805 SCV001798691 likely benign not provided no assertion criteria provided clinical testing

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