ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=)

gnomAD frequency: 0.00002  dbSNP: rs376083444
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 RCV002200917 SCV002489647 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500426 SCV002808084 likely benign Fraser syndrome 1 2021-11-22 criteria provided, single submitter clinical testing

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