ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.303-19A>G

gnomAD frequency: 0.00031  dbSNP: rs141033711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613549 SCV000722236 likely benign not specified 2017-09-06 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 RCV001451631 SCV001655270 likely benign Multiple mitochondrial dysfunctions syndrome 1 2024-01-13 criteria provided, single submitter clinical testing

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