ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.121G>A (p.Val41Met) (rs143153487)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000175522 SCV000280887 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624931 SCV000744131 likely benign Unverricht-Lundborg syndrome 2016-09-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187274 SCV000227015 likely benign not specified 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000187274 SCV000240856 likely benign not specified 2018-03-06 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 Diagnostics Laboratory,University Medical Center Utrecht RCV000624931 SCV000743130 benign Unverricht-Lundborg syndrome 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000472091 SCV000547857 likely benign Progressive myoclonic epilepsy 2018-01-02 criteria provided, single submitter clinical testing

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