ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.353C>G (p.Pro118Arg)

dbSNP: rs1753504839
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331294 SCV001523305 uncertain significance Hereditary spastic paraplegia 42 2020-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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