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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