ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) (rs370597096)

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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 RCV000041876 SCV000065572 likely benign not specified 2012-11-20 criteria provided, single submitter clinical testing Leu2015Phe in exon 30 of USH2A: This variant has been identified in 0.02% (2/860 0) of European American chromosomes from a broad population by the NHLBI Exome S equencing Project ( It is not expected to hav e clinical significance due to a lack of conservation across species, including mammals. Of note, guinea pig, dolphin, cow and tenrec have a phenylalanine (Phe ) at this position. Therefore, this variant is likely benign.
Counsyl RCV000665501 SCV000789636 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-08 criteria provided, single submitter clinical testing

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