ClinVar Miner

Submissions for variant NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) (rs1555050165)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622540 SCV000741280 likely pathogenic Inborn genetic diseases 2016-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: CANDIDATE: Alteration(s) of Potential Clinical Relevance Detected
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig RCV000627679 SCV000611122 likely pathogenic Intellectual functioning disability no assertion criteria provided clinical testing
OMIM RCV000578478 SCV000680481 pathogenic NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 2018-02-07 no assertion criteria provided literature only

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