ClinVar Miner

Submissions for variant NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) (rs113614842)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000269733 SCV000265650 uncertain significance Townes-Brocks syndrome 1 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000322345 SCV000344339 benign not specified 2016-08-30 criteria provided, single submitter clinical testing
Invitae RCV000871207 SCV001012818 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing

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