ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.43+59G>T

dbSNP: rs7560774
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839856 SCV000981764 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 RCV001579075 SCV001806476 benign Lethal multiple pterygium syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579076 SCV001806477 benign Congenital myasthenic syndrome 1A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579077 SCV001806478 benign Myasthenic syndrome, congenital, 1B, fast-channel 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839856 SCV005238460 benign not provided criteria provided, single submitter not provided

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