ClinVar Miner

Submissions for variant NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) (rs139633601)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187425 SCV000241013 likely benign not specified 2017-08-31 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725204 SCV000334952 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
Invitae RCV001087564 SCV000648582 likely benign Cerebral folate deficiency 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718474 SCV000849338 uncertain significance History of neurodevelopmental disorder 2019-09-20 criteria provided, single submitter clinical testing Insufficient evidence
Athena Diagnostics Inc RCV000725204 SCV001143957 benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001087564 SCV001268709 likely benign Cerebral folate deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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