ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.906+7C>T

gnomAD frequency: 0.00007  dbSNP: rs376001900
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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 RCV001403745 SCV001605629 likely benign Glutamate formiminotransferase deficiency 2022-09-16 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251765 SCV001427507 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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