ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.12567T>C (p.Val4189=)

gnomAD frequency: 0.00220  dbSNP: rs35694170
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000910040 SCV001054883 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000910040 SCV001777381 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing

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