ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)

dbSNP: rs1599570613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246765 SCV002519852 pathogenic Pitt-Hopkins syndrome 2022-05-04 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV002246765 SCV004099393 uncertain significance Pitt-Hopkins syndrome 2023-10-30 no assertion criteria provided clinical testing

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