ClinVar Miner

Submissions for variant NM_020401.4(NUP107):c.1178C>A (p.Thr393Lys)

gnomAD frequency: 0.00001  dbSNP: rs539628480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776882 SCV002013803 uncertain significance not provided 2019-09-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001776882 SCV005694444 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing

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