ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.508+26T>A

gnomAD frequency: 0.47213  dbSNP: rs1800738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675463 SCV000971583 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001538072 SCV001755086 benign Neuronal ceroid lipofuscinosis 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538073 SCV001755087 benign Autosomal recessive spinocerebellar ataxia 7 2021-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675463 SCV000801150 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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