ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.909C>T (p.Pro303=)

gnomAD frequency: 0.00001  dbSNP: rs764483578
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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 RCV001396641 SCV001598377 likely benign Myoclonic dystonia 11 2021-07-25 criteria provided, single submitter clinical testing

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