ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.399A>G (p.Leu133=)

dbSNP: rs2102633155
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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 RCV001493783 SCV001698419 likely benign Severe myoclonic epilepsy in infancy 2020-06-22 criteria provided, single submitter clinical testing

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