ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.81C>T (p.Pro27=)

dbSNP: rs1318367897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093308 SCV002375826 likely benign Myoclonic dystonia 11 2023-05-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426313 SCV004162534 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SGCE: PM2:Supporting, BP4, BP7

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