ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1113C>T (p.His371=)

gnomAD frequency: 0.00004  dbSNP: rs150508714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804814 SCV000944745 benign Intellectual disability, autosomal dominant 8 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537185 SCV003737953 uncertain significance Inborn genetic diseases 2021-10-19 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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