ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) (rs149571533)

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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 RCV000318699 SCV000441796 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518613 SCV000615321 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
Invitae RCV000528567 SCV000629414 benign not provided 2019-02-25 criteria provided, single submitter clinical testing

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