ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6513G>C (p.Gly2171=) (rs876657629)

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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 RCV000213176 SCV000271173 likely benign not specified 2015-03-25 criteria provided, single submitter clinical testing p.Gly2171Gly in Exon 34 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Counsyl RCV000669665 SCV000794441 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-26 criteria provided, single submitter clinical testing

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