ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)

dbSNP: rs12575909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224647 SCV000280975 likely benign not provided 2015-06-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000440890 SCV000526126 benign not specified 2016-05-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081884 SCV001005223 benign ALG9 congenital disorder of glycosylation 2024-12-31 criteria provided, single submitter clinical testing

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