ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.747A>C (p.Pro249=)

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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 RCV003854149 SCV004659247 likely benign Tyrosinemia type I 2023-03-08 criteria provided, single submitter clinical testing

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