ClinVar Miner

Submissions for variant NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)

dbSNP: rs2131435194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001837733 SCV002098351 uncertain significance Leber congenital amaurosis with early-onset deafness 2022-01-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001837733 SCV003836299 uncertain significance Leber congenital amaurosis with early-onset deafness 2022-03-14 criteria provided, single submitter clinical testing
GeneDx RCV003389263 SCV004101376 pathogenic not provided 2023-11-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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