ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.10392C>A (p.Ile3464=)

gnomAD frequency: 0.00032  dbSNP: rs140494092
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
Invitae RCV000912919 SCV001058045 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000912919 SCV003916916 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FAT4: BP4, BP7

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