ClinVar Miner

Submissions for variant NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup) (rs1555475414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254222 SCV000309291 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000254222 SCV000340138 benign not specified 2016-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356333 SCV000397646 uncertain significance Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533357 SCV000630914 likely benign Townes syndrome 2017-02-28 criteria provided, single submitter clinical testing

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