ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.2056-10C>T

dbSNP: rs201931307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557101 SCV001778801 likely benign not provided 2020-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072092 SCV002485092 benign Congenital myasthenic syndrome 12 2023-08-17 criteria provided, single submitter clinical testing

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