ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.19G>A (p.Val7Ile)

gnomAD frequency: 0.00006  dbSNP: rs199891552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173492 SCV000224610 uncertain significance not provided 2014-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054051 SCV002367503 benign ALG1-congenital disorder of glycosylation 2024-01-18 criteria provided, single submitter clinical testing

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