ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) (rs562525508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180037 SCV000232386 uncertain significance not provided 2014-08-11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844911 SCV000986718 not provided Deafness, autosomal recessive 12; Usher syndrome, type 1D no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/15/2018 by GTR ID Blueprint Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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