ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) (rs878853271)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000225104 SCV000298025 pathogenic You-Hoover-Fong syndrome criteria provided, single submitter research
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000225104 SCV000584063 pathogenic You-Hoover-Fong syndrome 2017-06-08 criteria provided, single submitter research
Eurofins NTD, LLC RCV000734871 SCV000863049 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing
OMIM RCV000225104 SCV000282067 pathogenic You-Hoover-Fong syndrome 2019-09-10 no assertion criteria provided literature only

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