ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3700A>G (p.Ile1234Val) (rs200276882)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041832 SCV000065528 likely benign not specified 2010-11-15 criteria provided, single submitter clinical testing Ile1234Val in exon 17 of USH2A: This variant is not expected to have clinical si gnificance because this residue is not highly conserved across species and compu tational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest an impact to the pr otein. Of note, platypus, chicken and lizard also have a valine at this position .
Illumina Clinical Services Laboratory,Illumina RCV000291877 SCV000354123 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346771 SCV000354124 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000669144 SCV000793861 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-01 criteria provided, single submitter clinical testing

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