ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1302C>T (p.Asp434=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003503604 SCV004365954 likely benign Glutamate formiminotransferase deficiency 2023-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754995 SCV005364406 likely benign FTCD-related disorder 2019-08-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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