ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) (rs202110907)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866724 SCV001007859 likely benign Alstrom syndrome 2020-11-23 criteria provided, single submitter clinical testing
GeneDx RCV001549857 SCV001770085 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing 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
Natera, Inc. RCV000866724 SCV001459587 likely benign Alstrom syndrome 2020-01-10 no assertion criteria provided clinical testing

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