ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)

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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 RCV001330790 SCV001522594 uncertain significance Neuronal ceroid lipofuscinosis 6 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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