ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.528G>A (p.Val176=)

dbSNP: rs2151097833
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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 RCV002098397 SCV002395336 likely benign Congenital myasthenic syndrome 4A 2023-03-29 criteria provided, single submitter clinical testing

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