ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.375A>T (p.Ala125=)

gnomAD frequency: 0.00004  dbSNP: rs773812783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887078 SCV001030617 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2023-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955924 SCV004784182 likely benign SLC35A3-related disorder 2019-08-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000887078 SCV002094602 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2020-09-11 no assertion criteria provided clinical testing

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