ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.618C>T (p.His206=)

gnomAD frequency: 0.00004  dbSNP: rs374336458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001410866 SCV001612921 likely benign ALG6-congenital disorder of glycosylation 1C 2024-01-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001410866 SCV003826170 uncertain significance ALG6-congenital disorder of glycosylation 1C 2020-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001410866 SCV002092716 likely benign ALG6-congenital disorder of glycosylation 1C 2021-03-12 no assertion criteria provided clinical testing

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