ClinVar Miner

Submissions for variant NM_006186.4(NR4A2):c.-223C>T

gnomAD frequency: 0.01558  dbSNP: rs114461423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259760 SCV000417295 likely benign Parkinson disease, late-onset 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV004710852 SCV005256364 likely benign not provided criteria provided, single submitter not provided

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