ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.192+9T>C

dbSNP: rs1386784352
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 RCV000982871 SCV001130890 likely benign Tyrosinemia type I 2024-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000982871 SCV001454940 uncertain significance Tyrosinemia type I 2020-01-17 no assertion criteria provided clinical testing

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