ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=)

gnomAD frequency: 0.00001  dbSNP: rs756540483
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091707 SCV001247899 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003624442 SCV004522299 likely benign Syndromic X-linked intellectual disability 14 2022-11-21 criteria provided, single submitter clinical testing

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