ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.1659C>T (p.Pro553=)

gnomAD frequency: 0.00031  dbSNP: rs2276263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416091 SCV000493623 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085276 SCV000649510 benign ALG9 congenital disorder of glycosylation 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000602616 SCV000713966 benign not specified 2017-04-25 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.

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