ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp)

gnomAD frequency: 0.00003  dbSNP: rs370141803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636346 SCV000757785 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-06 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252185 SCV002523830 uncertain significance See cases 2020-10-21 criteria provided, single submitter clinical testing ACMG classification criteria: PP2, PP3

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