ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1206C>T (p.Arg402=)

dbSNP: rs2142112638
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125817 SCV002450371 likely benign Tyrosinemia type I 2021-02-22 criteria provided, single submitter clinical testing

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