ClinVar Miner

Submissions for variant NM_002868.4(RAB5B):c.406G>C (p.Asp136His)

dbSNP: rs2136490152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001837728 SCV002098342 uncertain significance RAB5B-associated surfactant dysfunction disorder 2019-01-10 criteria provided, single submitter clinical testing This individual has been published in PMID: 35121658.
OMIM RCV001843337 SCV002102476 uncertain significance not provided 2022-03-02 no assertion criteria provided literature only

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