ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.306G>C (p.Leu102=)

dbSNP: rs2102579271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001486442 SCV001690899 likely benign Severe myoclonic epilepsy in infancy 2019-11-16 criteria provided, single submitter clinical testing

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