ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) (rs144015992)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303264 SCV000441787 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000633077 SCV000754289 likely benign Spastic paraplegia 2018-01-02 criteria provided, single submitter clinical testing

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