ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.8064C>T (p.Ser2688=)

gnomAD frequency: 0.00007  dbSNP: rs371145937
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 RCV000895379 SCV001039416 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501498 SCV002813590 likely benign Fraser syndrome 1 2021-12-14 criteria provided, single submitter clinical testing

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