ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1392C>G (p.Ala464=)

dbSNP: rs1047179
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081448 SCV000113379 benign not specified 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520879 SCV001730092 benign Glutamate formiminotransferase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520879 SCV001933661 benign Glutamate formiminotransferase deficiency 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001723660 SCV001949755 benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723660 SCV005279568 benign not provided criteria provided, single submitter not provided

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