ClinVar Miner

Submissions for variant NM_016729.3(FOLR1):c.447C>T (p.Ser149=)

gnomAD frequency: 0.00002  dbSNP: rs191657981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704757 SCV000728454 likely benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000868606 SCV001009957 likely benign Cerebral folate transport deficiency 2024-08-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821749 SCV002070108 likely benign not specified 2020-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917954 SCV004731630 likely benign FOLR1-related disorder 2019-04-09 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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