ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.854T>C (p.Val285Ala)

dbSNP: rs1597618787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989681 SCV001140216 pathogenic Congenital myasthenic syndrome 4A 2019-05-28 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV004768763 SCV005091521 likely pathogenic Congenital myasthenic syndrome 4C 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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