ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.801+19del

dbSNP: rs2102681542
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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 RCV002149070 SCV002465019 benign Severe myoclonic epilepsy in infancy 2021-01-19 criteria provided, single submitter clinical testing

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