ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3621C>T (p.Ile1207=) (rs146462407)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041831 SCV000065527 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing Ile1207Ile in exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.5% (19/3738) of Africa n American chromosomes in a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs146462407).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041831 SCV000340699 benign not specified 2016-04-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341412 SCV000354127 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394479 SCV000354128 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974887 SCV001122758 benign not provided 2019-02-15 criteria provided, single submitter clinical testing

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