ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.800C>G (p.Thr267Ser) (rs138144479)

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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 RCV000214571 SCV000268789 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr267Ser in exon 9 of ANO5: This variant is not expected to have clinical signi ficance because it has been identified in 2.1% (91/4406) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs138144479).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214571 SCV000337932 benign not specified 2015-12-11 criteria provided, single submitter clinical testing
Invitae RCV000710582 SCV000645923 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710582 SCV000840824 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000214571 SCV000525089 benign not specified 2017-01-05 no assertion criteria provided clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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