ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.*5553del

dbSNP: rs71670792
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347298 SCV000409439 uncertain significance Pitt-Hopkins syndrome 2016-06-14 criteria provided, single submitter clinical testing

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