ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) (rs104894709)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788451 SCV000927570 likely pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing
OMIM RCV000006979 SCV000027175 pathogenic Bare lymphocyte syndrome, type II, complementation group B 2003-02-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985115 SCV001133087 likely pathogenic Bare lymphocyte syndrome 2 2019-09-26 no assertion criteria provided clinical testing

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