ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) (rs141259390)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726133 SCV000342251 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000261771 SCV000535148 likely benign not specified 2017-08-14 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.
Invitae RCV001088960 SCV001129799 likely benign Achondrogenesis, type IA 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001088960 SCV001275041 likely benign Achondrogenesis, type IA 2017-06-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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