ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.1003-53A>G

gnomAD frequency: 0.87287  dbSNP: rs2646159
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838775 SCV000980653 benign not provided 2018-06-16 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 RCV001579068 SCV001806468 benign Congenital myasthenic syndrome 1A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579069 SCV001806469 benign Myasthenic syndrome, congenital, 1B, fast-channel 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579207 SCV001806659 benign Lethal multiple pterygium syndrome 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838775 SCV005238451 benign not provided criteria provided, single submitter not provided

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