ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.632-1212C>T

gnomAD frequency: 0.00004  dbSNP: rs587780948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125181 SCV000168622 benign not specified 2013-10-08 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000125181 SCV000258284 uncertain significance not specified 2015-05-11 criteria provided, single submitter clinical testing

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