ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11225A>G (p.Asn3742Ser) (rs139921272)

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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 RCV000727022 SCV000704998 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041689 SCV000065385 likely benign not specified 2018-04-17 criteria provided, single submitter clinical testing p.Asn3742Ser in exon 57 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.21% (50/24030) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org/; dbSNP rs139921272). In addition, computational prediction tools do not sug gest a high likelihood of impact to the protein. ACMG/AMP Criteria applied: BS1_ Supporting; BP4.

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