ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) (rs34989098)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118223 SCV000152582 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224256 SCV000281393 likely benign not provided 2015-10-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000118223 SCV000526492 likely benign not specified 2017-06-30 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.
Baylor Genetics RCV000679856 SCV000807206 uncertain significance Microcephaly, short stature, and polymicrogyria with or without seizures 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 3-year-old female with microcephaly, craniosynostosis, dysmorphisms, fused labia, absence seizures, failure to thrive. However, allele frequency is high, and homozygotes have been found in controls.
Invitae RCV000224256 SCV001105284 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224256 SCV001501206 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing

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