ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.822C>T (p.Asp274=)

gnomAD frequency: 0.00006  dbSNP: rs771189015
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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 RCV000638206 SCV000759692 likely benign Severe myoclonic epilepsy in infancy 2024-12-22 criteria provided, single submitter clinical testing

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