ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.213del (p.Ser72fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051089 SCV005683699 likely pathogenic Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2024-03-07 criteria provided, single submitter clinical testing

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