ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.3597G>A (p.Thr1199=)

gnomAD frequency: 0.00494  dbSNP: rs115460650
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904918 SCV001049472 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000904918 SCV001813180 likely benign not provided 2020-07-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000904918 SCV005256843 likely benign not provided criteria provided, single submitter not provided

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