ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6364G>T (p.Ala2122Ser) (rs142786231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724908 SCV000332330 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220285 SCV000271172 likely benign not specified 2017-05-16 criteria provided, single submitter clinical testing p.Ala2122Ser in exon 33 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (92/24028) of African chromo somes including 1 homozygote by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org; dbSNP rs142786231).

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