ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.520C>A (p.Arg174=)

dbSNP: rs878853149
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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 RCV001456127 SCV001659903 likely benign Pitt-Hopkins syndrome 2022-07-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704574 SCV005206313 likely benign not provided criteria provided, single submitter not provided

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