ClinVar Miner

Submissions for variant NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile)

gnomAD frequency: 0.00095  dbSNP: rs151009402
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 RCV000538105 SCV000654779 benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000538105 SCV002094608 likely benign Autism spectrum disorder - epilepsy - arthrogryposis syndrome 2019-12-06 no assertion criteria provided clinical testing

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