ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) (rs146655918)

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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 RCV000175745 SCV000227285 likely benign not specified 2015-06-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359883 SCV000397626 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000634155 SCV000755454 likely benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing

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