ClinVar Miner

Submissions for variant NM_016729.3(FOLR1):c.357+8T>A

gnomAD frequency: 0.00016  dbSNP: rs886042924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725511 SCV000337417 uncertain significance not provided 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000311284 SCV000513076 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001498772 SCV001703525 likely benign Cerebral folate transport deficiency 2024-12-28 criteria provided, single submitter clinical testing

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