ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.246C>T (p.Leu82=)

gnomAD frequency: 0.00004  dbSNP: rs192006771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228541 SCV000289850 benign Intellectual disability, autosomal dominant 8 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429125 SCV002731710 likely benign Inborn genetic diseases 2018-02-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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