ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) (rs376996058)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670300 SCV000795135 uncertain significance Alstrom syndrome 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001553212 SCV001774038 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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

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