ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.285G>A (p.Ser95=)

gnomAD frequency: 0.00005  dbSNP: rs368530347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160318 SCV002415134 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV002160318 SCV002575183 likely benign not provided 2020-07-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002434520 SCV002748218 likely benign Inborn genetic diseases 2018-11-28 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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