ClinVar Miner

Submissions for variant NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

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Total submissions: 2
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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 RCV000225207 SCV000298029 pathogenic You-Hoover-Fong syndrome criteria provided, single submitter research
OMIM RCV000225207 SCV000282071 pathogenic You-Hoover-Fong syndrome 2019-09-10 no assertion criteria provided literature only

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