ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.453T>A (p.Pro151=)

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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 RCV005085494 SCV005715806 likely benign Congenital myasthenic syndrome 15 2024-11-14 criteria provided, single submitter clinical testing

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