ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) (rs140884994)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179680 SCV000231968 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624879 SCV000742727 uncertain significance Inborn genetic diseases 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763668 SCV000894548 uncertain significance Deafness, autosomal recessive 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331235 SCV001523229 uncertain significance Deafness, autosomal recessive 12 2019-05-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001276932 SCV001463589 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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