ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1619A>T (p.Asp540Val)

dbSNP: rs1568329461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678972 SCV000805188 uncertain significance Pitt-Hopkins syndrome 2018-05-29 criteria provided, single submitter clinical testing

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