ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.1207T>C (p.Tyr403His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ricardo Maselli Laboratory, University of California Davis RCV003485004 SCV004232347 likely pathogenic Congenital myasthenic syndrome 20 2024-01-16 no assertion criteria provided clinical testing Congenital Myasthenic Syndrome with episodic apneas

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