ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7451+3G>A (rs397518030)

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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,Partners HealthCare Personalized Medicine RCV000041908 SCV000065604 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing 7451+3G>A in intron 39 USH2A: This variant has not been reported in the literatu re nor previously identified by our laboratory. However, splice site prediction tools do not suggest an impact to splicing. Therefore, this variant is more like ly benign.
Counsyl RCV000667778 SCV000792282 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-13 criteria provided, single submitter clinical testing

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