ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.231C>T (p.Asp77=)

gnomAD frequency: 0.00130  dbSNP: rs371538775
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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 RCV000502818 SCV000594344 likely benign not specified 2016-12-17 criteria provided, single submitter clinical testing
Invitae RCV000952209 SCV001098693 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952209 SCV001500442 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing DEAF1: BP4, BP7

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