ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9636C>T (p.Ile3212=)

dbSNP: rs397518049
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Total submissions: 1
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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 RCV000041958 SCV000065654 likely benign not specified 2010-08-18 criteria provided, single submitter clinical testing Ile3212Ile in exon 49 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.

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