ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.968C>T (p.Ala323Val)

dbSNP: rs797045003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000190500 SCV005088737 likely pathogenic Pitt-Hopkins syndrome 2021-08-03 criteria provided, single submitter clinical testing This variant is predicted to be damaging by in-silico missense prediction tools (SIFT and Polyphen2). The variant has not been previously reported in the literature.
Mendelics RCV000190500 SCV000245386 pathogenic Pitt-Hopkins syndrome 2014-05-19 no assertion criteria provided clinical testing

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