ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) (rs8178990)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116699 SCV000313632 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116699 SCV000519349 benign not specified 2016-01-19 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000116699 SCV000538676 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV000552676 SCV000634139 benign Familial infantile myasthenia 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116699 SCV001475776 benign not specified 2019-12-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116699 SCV000150668 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676664 SCV000802459 benign not provided 2016-02-24 no assertion criteria provided clinical testing

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