ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.645G>T (p.Pro215=)

dbSNP: rs151221329
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 RCV001278296 SCV001596347 likely benign Tyrosinemia type I 2024-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278296 SCV001465296 uncertain significance Tyrosinemia type I 2020-04-24 no assertion criteria provided clinical testing

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