ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp)

gnomAD frequency: 0.00083  dbSNP: rs149061222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974267 SCV001122083 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000974267 SCV003813441 uncertain significance not provided 2019-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000974267 SCV005328271 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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