ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=)

gnomAD frequency: 0.00014  dbSNP: rs202179285
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822296 SCV002066403 benign not specified 2017-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074265 SCV002390236 likely benign not provided 2024-07-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002074265 SCV005041572 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing DEAF1: BP4, BP7

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