ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val)

gnomAD frequency: 0.00003  dbSNP: rs202187894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636317 SCV000757756 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-02-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658649 SCV000780431 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000658649 SCV003821350 uncertain significance not provided 2020-05-13 criteria provided, single submitter clinical testing

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