ClinVar Miner

Submissions for variant NM_014305.4(TGDS):c.700T>C (p.Tyr234His)

gnomAD frequency: 0.00001  dbSNP: rs544436734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000149818 SCV000196645 pathogenic Catel-Manzke syndrome 2014-12-04 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573977 SCV001800619 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573977 SCV001970804 likely pathogenic not provided no assertion criteria provided clinical testing

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