ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) (rs7481951)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082855 SCV000114907 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082855 SCV000150279 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082855 SCV000268790 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Leu322Phe in exon 10 of ANO5: This variant is not expected to have clinical si gnificance because it has been identified in 41.4% (3559/8600) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs7481951).
PreventionGenetics,PreventionGenetics RCV000082855 SCV000317299 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386589 SCV000369974 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261985 SCV000369975 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000082855 SCV000512054 benign not specified 2015-07-07 criteria provided, single submitter 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.
Athena Diagnostics Inc RCV000082855 SCV000612369 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
ANO5 @LOVD RCV000128791 SCV000172434 not provided not provided no assertion provided not provided

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