ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.252C>T (p.Pro84=)

dbSNP: rs2485169710
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003023044 SCV003320417 likely benign Myoclonic dystonia 11 2022-02-19 criteria provided, single submitter clinical testing

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