ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.235-385C>T

gnomAD frequency: 0.99734  dbSNP: rs2646164
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250261 SCV000306139 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000838773 SCV000980651 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 RCV001579070 SCV001806470 benign Lethal multiple pterygium syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579071 SCV001806471 benign Congenital myasthenic syndrome 1A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579072 SCV001806472 benign Myasthenic syndrome, congenital, 1B, fast-channel 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838773 SCV005238455 benign not provided criteria provided, single submitter not provided

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