ClinVar Miner

Submissions for variant NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) (rs114490852)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000291128 SCV000356765 likely benign Fucosidosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000291128 SCV000626483 benign Fucosidosis 2017-12-21 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675661 SCV000801362 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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