ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.8A>G (p.Gln3Arg)

gnomAD frequency: 0.00002  dbSNP: rs898658081
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 RCV003770379 SCV004617407 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265466 SCV001443602 uncertain significance Intellectual disability-severe speech delay-mild dysmorphism syndrome 2019-02-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-04 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2019-01-02 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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