ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln)

gnomAD frequency: 0.00016  dbSNP: rs199945820
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 RCV000871536 SCV001013213 likely benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501310 SCV002808946 likely benign Autism spectrum disorder due to AUTS2 deficiency 2022-04-25 criteria provided, single submitter clinical testing

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