ClinVar Miner

Submissions for variant NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133080 SCV003814177 likely pathogenic Developmental and epileptic encephalopathy 96 2023-07-24 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003133080 SCV004812029 uncertain significance Developmental and epileptic encephalopathy 96 2023-02-14 no assertion criteria provided clinical testing

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