ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup) (rs113614842)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000403758 SCV000335146 benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393511 SCV000397647 uncertain significance Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000872954 SCV001014860 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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