ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1593C>T (p.Asp531=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003618966 SCV004534859 likely benign Pitt-Hopkins syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703329 SCV005209949 likely benign not provided criteria provided, single submitter not provided

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