ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1425+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131758 SCV003812174 likely pathogenic not provided 2022-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005051267 SCV005683675 likely pathogenic Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2024-04-30 criteria provided, single submitter clinical testing

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