ClinVar Miner

Submissions for variant NM_199292.3(TH):c.1263C>G (p.Ala421=) (rs199839852)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606722 SCV000721900 likely benign not specified 2017-08-25 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.
Illumina Clinical Services Laboratory,Illumina RCV000367406 SCV000369911 uncertain significance Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000630735 SCV000751702 likely benign Dystonia 2017-12-04 criteria provided, single submitter clinical testing

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