ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.420T>C (p.Pro140=)

gnomAD frequency: 0.00001  dbSNP: rs886038226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252659 SCV000301940 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501458 SCV001706271 likely benign Congenital myasthenic syndrome 4A 2023-12-16 criteria provided, single submitter clinical testing

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