ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)

dbSNP: rs1057516319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411513 SCV000485464 likely pathogenic Neuronal ceroid lipofuscinosis 2 2015-12-14 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814153 SCV001755133 pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing

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