ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1032T>C (p.His344=)

gnomAD frequency: 0.00010  dbSNP: rs146265933
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278130 SCV001679329 likely benign ALG6-congenital disorder of glycosylation 1C 2025-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278130 SCV001465126 likely benign ALG6-congenital disorder of glycosylation 1C 2020-09-10 no assertion criteria provided clinical testing

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