ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.816+10A>T

gnomAD frequency: 0.00006  dbSNP: rs529032571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930221 SCV001075867 likely benign ALG6-congenital disorder of glycosylation 1C 2024-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818896 SCV002065121 uncertain significance not specified 2017-09-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000930221 SCV002092721 likely benign ALG6-congenital disorder of glycosylation 1C 2020-02-25 no assertion criteria provided clinical testing

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