ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)

dbSNP: rs727504175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154000 SCV000203625 pathogenic not provided 2014-03-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000154000 SCV003813561 likely pathogenic not provided 2022-07-20 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283846 SCV001469279 likely pathogenic Pitt-Hopkins syndrome 2020-08-07 no assertion criteria provided clinical testing

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