ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro)

dbSNP: rs200322331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553204 SCV001774028 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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. RCV001827462 SCV002082012 uncertain significance Familial dysautonomia 2020-04-28 no assertion criteria provided clinical testing

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