ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001503597 SCV001708453 likely benign Alstrom syndrome 2020-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001762702 SCV002000363 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing Observed in 6/128440 (0.0047%) alleles from individuals in large population cohorts (Lek et al., 2016).; In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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