ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.184del (p.Ala62fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003327952 SCV004034720 likely pathogenic not provided 2023-08-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005036743 SCV005661540 likely pathogenic Glutamate formiminotransferase deficiency 2024-04-18 criteria provided, single submitter clinical testing

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