ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1578+18T>C

gnomAD frequency: 0.00001  dbSNP: rs781549825
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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 RCV002077539 SCV002326292 likely benign Severe myoclonic epilepsy in infancy 2022-02-11 criteria provided, single submitter clinical testing

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