ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)

dbSNP: rs121908922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000007030 SCV005058482 pathogenic Congenital myasthenic syndrome 5 2024-03-27 criteria provided, single submitter clinical testing
OMIM RCV000007030 SCV000027226 pathogenic Congenital myasthenic syndrome 5 1998-08-04 no assertion criteria provided literature only

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