ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.1322C>A (p.Thr441Asn) (rs76275412)

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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 RCV000301654 SCV000337317 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291750 SCV000397639 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000864422 SCV001005220 likely benign not provided 2017-09-20 criteria provided, single submitter clinical testing

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