ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV003227554 SCV003924025 likely pathogenic Seizures, benign familial infantile, 5 2023-02-01 criteria provided, single submitter clinical testing

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