ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.351G>C (p.Val117=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002695756 SCV002992641 likely benign Severe myoclonic epilepsy in infancy 2022-02-02 criteria provided, single submitter clinical testing

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