ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) (rs370271775)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432091 SCV000535809 uncertain significance not provided 2021-07-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 26582918)
Counsyl RCV000665780 SCV000789952 uncertain significance Alstrom syndrome 2017-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665780 SCV001453456 uncertain significance Alstrom syndrome 2020-01-17 no assertion criteria provided clinical testing

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