ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.-10T>G (rs7923716)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173502 SCV000224620 benign not specified 2018-05-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173502 SCV000313606 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000173502 SCV000519218 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 RCV000173502 SCV000538673 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
Nilou-Genome Lab RCV001578876 SCV001806226 benign Familial infantile myasthenia 2021-07-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676659 SCV000802454 benign not provided 2016-02-29 no assertion criteria provided clinical testing

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