ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5598G>A (p.Thr1866=)

gnomAD frequency: 0.00004  dbSNP: rs370130221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698377 SCV000533410 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001698377 SCV002421512 likely benign not provided 2024-09-16 criteria provided, single submitter clinical testing

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