ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.6A>T (p.Gly2=)

gnomAD frequency: 0.00005  dbSNP: rs747594496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601158 SCV000730243 likely benign not specified 2018-02-05 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.
Eurofins Ntd Llc (ga) RCV000728656 SCV000856256 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
Invitae RCV000728656 SCV001012469 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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