ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.2040G>A (p.Val680=)

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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 RCV002726235 SCV003007276 benign Congenital myasthenic syndrome 12 2023-08-28 criteria provided, single submitter clinical testing

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