ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.896C>A (p.Pro299His)

dbSNP: rs758921701
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001572615 SCV001786672 likely pathogenic Ceroid lipofuscinosis, neuronal, 6A criteria provided, single submitter clinical testing

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