ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) (rs77517267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489305 SCV000576824 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as likely benign (ClinVar Variant ID# 426397; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 26582918, 32746448)
Invitae RCV001084303 SCV000756127 likely benign Alstrom syndrome 2020-11-21 criteria provided, single submitter clinical testing

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