ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1389+11G>A

dbSNP: rs1770815162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334682 SCV001527591 uncertain significance Mitochondrial DNA depletion syndrome 13 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002547329 SCV003340566 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing

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