ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1381= (p.Met461=) (rs4838544)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180671 SCV000233150 benign not specified 2014-11-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000180671 SCV000538677 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
Mendelics RCV000988358 SCV001138046 benign Familial infantile myasthenia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000988358 SCV001721742 benign Familial infantile myasthenia 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000988358 SCV001806229 benign Familial infantile myasthenia 2021-07-22 criteria provided, single submitter clinical testing

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