ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) (rs119455958)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002767 SCV000791297 likely pathogenic Ceroid lipofuscinosis neuronal 2 2017-05-15 criteria provided, single submitter clinical testing
OMIM RCV000002767 SCV000022925 pathogenic Ceroid lipofuscinosis neuronal 2 2004-04-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002767 SCV000091201 not provided Ceroid lipofuscinosis neuronal 2 no assertion provided not provided

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