ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.116-6G>A

gnomAD frequency: 0.00001  dbSNP: rs762154144
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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 RCV002191879 SCV002481331 likely benign Congenital myasthenic syndrome 12 2021-01-02 criteria provided, single submitter clinical testing

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