ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) (rs149302006)

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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 RCV000348679 SCV000342138 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV000870809 SCV001012355 benign Townes syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000387972 SCV001140102 likely benign Townes-Brocks syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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