ClinVar Miner

Submissions for variant NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn)

dbSNP: rs11567847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine RCV001264402 SCV001442517 uncertain significance Helicoid peripapillary chorioretinal degeneration 2020-11-10 no assertion criteria provided clinical testing
OMIM RCV001264402 SCV002600217 pathogenic Helicoid peripapillary chorioretinal degeneration 2022-11-11 no assertion criteria provided literature only

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