ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.854-13_854-12del (rs67309103)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338507 SCV000419475 benign Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407750 SCV000419476 benign Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000615975 SCV000729902 benign not specified 2018-03-14 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.

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