ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.825C>T (p.His275=)

gnomAD frequency: 0.00310  dbSNP: rs144498322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945685 SCV001091726 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818926 SCV002067681 benign not specified 2018-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000945685 SCV004128646 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing DEAF1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV004543541 SCV004784907 benign DEAF1-related disorder 2020-01-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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