ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)

gnomAD frequency: 0.00096  dbSNP: rs559805054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002201044 SCV002485684 benign ALG1-congenital disorder of glycosylation 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002201044 SCV002795065 likely benign ALG1-congenital disorder of glycosylation 2021-09-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584962 SCV005075244 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ALG1: BS2

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