ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7055-16A>G

gnomAD frequency: 0.34615  dbSNP: rs4747193
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039261 SCV000062945 benign not specified 2009-06-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039261 SCV000313994 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039261 SCV000706584 benign not specified 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV001519500 SCV001728381 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533710 SCV001750492 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533711 SCV001750493 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001519500 SCV001828090 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483004 SCV002795292 benign Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-04-21 criteria provided, single submitter clinical testing

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