ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.760T>C (p.Leu254=)

dbSNP: rs62562374
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082320 SCV000114277 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001704006 SCV000519280 benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Invitae RCV000547023 SCV000639602 benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000547023 SCV002802834 likely benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704006 SCV004158455 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ALG2: BP4, BP7, BS2

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