ClinVar Miner

Submissions for variant NM_006831.3(CLP1):c.422T>A (p.Leu141Ter)

dbSNP: rs1945858355
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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 RCV001331647 SCV001523732 uncertain significance Pontocerebellar hypoplasia type 10 2020-06-10 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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