ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.849C>T (p.Gly283=) (rs146030265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188047 SCV000241650 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae RCV001080362 SCV000652158 benign Pyruvate dehydrogenase lipoic acid synthetase deficiency 2020-12-08 criteria provided, single submitter clinical testing

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