ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) (rs8178991)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116690 SCV000313613 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116690 SCV000529114 benign not specified 2016-09-20 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.
Invitae RCV000534350 SCV000634109 benign Familial infantile myasthenia 2020-12-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116690 SCV000150659 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 RCV000676667 SCV000802462 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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