ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) (rs375716830)

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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 RCV000361857 SCV000337049 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277709 SCV000427806 uncertain significance Three M syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000886285 SCV001029785 benign not provided 2018-12-11 criteria provided, single submitter clinical testing

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