ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.666T>C (p.His222=)

gnomAD frequency: 0.00002  dbSNP: rs768359308
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 RCV001272519 SCV001595245 likely benign Tyrosinemia type I 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272519 SCV001454593 likely benign Tyrosinemia type I 2020-09-16 no assertion criteria provided clinical testing

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