ClinVar Miner

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

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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 RCV000292562 SCV000745146 benign Townes-Brocks syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202832 SCV000257792 benign not specified 2014-12-31 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
Illumina Clinical Services Laboratory,Illumina RCV000292562 SCV000397616 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540322 SCV000630912 benign Townes syndrome 2017-06-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000202832 SCV000309284 likely benign not specified criteria provided, single submitter clinical testing

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