ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) (rs118191309)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174645 SCV000225978 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000174645 SCV000528778 benign not specified 2016-07-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000376623 SCV000416822 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586775 SCV000697816 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.23704A>C (p.Lys7902Gln) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 4/4 in silico tools. This variant was found in 578/120716 control chromosomes (13 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.045908 (396/8626). This frequency is about 13 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000533536 SCV000640724 benign Nemaline myopathy 2 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174645 SCV000307318 benign not specified criteria provided, single submitter clinical testing

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