ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7045G>C (p.Val2349Leu) (rs540794663)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239199 SCV000297097 uncertain significance not specified 2015-11-30 criteria provided, single submitter clinical testing
Invitae RCV000897249 SCV001041385 benign not provided 2018-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000897249 SCV001812388 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
New York Genome Center RCV001254959 SCV001431043 uncertain significance Hearing impairment 2020-01-23 no assertion criteria provided clinical testing

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