ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.543A>T (p.Thr181=)

gnomAD frequency: 0.00003  dbSNP: rs746093643
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966578 SCV001113917 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274673 SCV001459037 uncertain significance Arthrogryposis multiplex congenita 2020-02-13 no assertion criteria provided clinical testing

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