ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)

gnomAD frequency: 0.00007  dbSNP: rs568371168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662048 SCV000784384 uncertain significance ALG3-congenital disorder of glycosylation 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000662048 SCV001040911 likely benign ALG3-congenital disorder of glycosylation 2022-11-02 criteria provided, single submitter clinical testing

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