ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.46+64G>A

gnomAD frequency: 0.08447  dbSNP: rs12602789
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838791 SCV000980669 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001542832 SCV001761215 benign Congenital myasthenic syndrome 4A 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542833 SCV001761216 benign Congenital myasthenic syndrome 4B 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542917 SCV001761329 benign Congenital myasthenic syndrome 4C 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838791 SCV005254727 benign not provided criteria provided, single submitter not provided

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