ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.4524G>A (p.Thr1508=)

gnomAD frequency: 0.00541  dbSNP: rs35489594
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 RCV000963615 SCV001110783 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963615 SCV002821333 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FAT2: BP4, BP7, BS2

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