ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.248+7_248+20del

dbSNP: rs749047869
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Total submissions: 2
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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 RCV000220457 SCV000271149 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing c.248+7_248+20del in intron 3 of USH1C: This variant is not expected to have cl inical significance because it is not located within the splice consensus sequen ce and it is not predicted to impact splicing.
Invitae RCV001059559 SCV001224186 likely benign not provided 2023-04-18 criteria provided, single submitter clinical testing

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