ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.831T>C (p.Asp277=)

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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 RCV002898585 SCV003235493 likely benign Myoclonic dystonia 11 2022-09-14 criteria provided, single submitter clinical testing

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