ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.11989G>A (p.Glu3997Lys)

gnomAD frequency: 0.00444  dbSNP: rs146458760
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 RCV000950140 SCV001096425 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950140 SCV003916998 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FAT2: BP4, BS2

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