ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His)

dbSNP: rs946957597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279491 SCV002787923 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-08-19 criteria provided, single submitter clinical testing
GeneDx RCV003235533 SCV003933058 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001279491 SCV001466588 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-09-08 no assertion criteria provided clinical testing

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