ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.483G>A (p.Gln161=)

gnomAD frequency: 0.00010  dbSNP: rs370315911
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
Invitae RCV000945944 SCV001092020 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000945944 SCV002094606 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2021-03-03 no assertion criteria provided clinical testing

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