ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=)

gnomAD frequency: 0.00010  dbSNP: rs779095746
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 RCV000871922 SCV001013659 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501315 SCV002804539 likely benign Fraser syndrome 1 2022-03-25 criteria provided, single submitter clinical testing

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