ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys)

gnomAD frequency: 0.00001  dbSNP: rs1270753573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674652 SCV000800027 uncertain significance Alstrom syndrome 2018-05-21 criteria provided, single submitter clinical testing
GeneDx RCV001766449 SCV001989669 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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