ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.216G>T (p.Gly72=)

gnomAD frequency: 0.00048  dbSNP: rs531748488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697809 SCV000526075 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Invitae RCV000698478 SCV000827144 likely benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2023-10-23 criteria provided, single submitter clinical testing

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