ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)

gnomAD frequency: 0.01232  dbSNP: rs17113312
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082209 SCV000114158 benign not specified 2012-11-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224586 SCV000280945 likely benign not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000082209 SCV000518680 benign not specified 2016-04-06 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.
Athena Diagnostics RCV000224586 SCV000840745 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082029 SCV001012410 benign ALG9 congenital disorder of glycosylation 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490723 SCV002799487 likely benign ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 2021-10-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224586 SCV005212183 likely benign not provided criteria provided, single submitter not provided

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