ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.597C>T (p.Ile199=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003431595 SCV004151978 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FTCD: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003609296 SCV004458659 likely benign Glutamate formiminotransferase deficiency 2023-12-09 criteria provided, single submitter clinical testing

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