ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) (rs201739856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669679 SCV000794455 uncertain significance Alstrom syndrome 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001546991 SCV001766607 uncertain significance not provided 2021-06-09 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 has a deleterious effect on 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)

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