ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7679A>G (p.Asn2560Ser) (rs370155266)

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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 RCV000041912 SCV000065608 uncertain significance not specified 2012-12-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn2560Ser vari ant in USH2A has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) does not provide strong evidence for or against pathogenicity. This variant has been identified in 0.01% (1/8600) of European American chromosomes and 0.02% (1/4406) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (, however this frequency is not high enough to rule out pathogen icity. In summary, additional data is needed to determine the clinical significa nce of this variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723775 SCV000203772 uncertain significance not provided 2014-02-18 criteria provided, single submitter clinical testing

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