ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.63T>G (p.Val21=)

gnomAD frequency: 0.00038  dbSNP: rs141542767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548469 SCV000654780 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925696 SCV004738337 likely benign SLC35A3-related disorder 2019-11-12 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. RCV001275499 SCV001460672 likely benign Arthrogryposis multiplex congenita 2020-09-16 no assertion criteria provided clinical testing

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