ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)

dbSNP: rs119455956
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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 RCV001290314 SCV001478365 likely pathogenic Neuronal ceroid lipofuscinosis 2 2020-02-04 criteria provided, single submitter clinical testing

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