ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.855C>T (p.Cys285=)

gnomAD frequency: 0.00036  dbSNP: rs373861624
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523410 SCV001733108 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001523410 SCV001748263 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing DEAF1: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV001821845 SCV002066976 benign not specified 2017-09-28 criteria provided, single submitter clinical testing

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