ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.816C>T (p.His272=)

gnomAD frequency: 0.00001  dbSNP: rs763902035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500742 SCV000597330 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003621544 SCV004532706 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2023-07-25 criteria provided, single submitter clinical testing

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