ClinVar Miner

Submissions for variant NM_006831.3(CLP1):c.159_161del (p.Lys54del)

dbSNP: rs758902215
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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 RCV001334610 SCV001527499 uncertain significance Pontocerebellar hypoplasia type 10 2018-03-27 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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