ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1008-6T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002776896 SCV003582175 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.1008-6T>G intronic alteration consists of a T to G substitution 6 nucleotides before exon 5 (coding exon 3) of the GRIN2A gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003741326 SCV004473235 likely benign Landau-Kleffner syndrome 2022-10-29 criteria provided, single submitter clinical testing

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