ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.262C>A (p.Arg88=)

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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 RCV003750675 SCV004526522 likely benign Congenital myasthenic syndrome 15 2023-12-11 criteria provided, single submitter clinical testing

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