ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.420C>G (p.Gly140=)

dbSNP: rs1671392979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244186 SCV001417390 likely benign Congenital myasthenic syndrome 12 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531320 SCV001746362 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing

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