ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1125C>T (p.Arg375=)

gnomAD frequency: 0.00005  dbSNP: rs587780972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125590 SCV000169047 benign not specified 2013-08-19 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.
Counsyl RCV000671745 SCV000796758 likely benign Neuronal ceroid lipofuscinosis 2 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000868268 SCV001009577 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing

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