ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) (rs796065338)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180764 SCV000233252 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586460 SCV000697810 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.19285_19286delinsAA (p.Ala6429delinsAsn) variant causes a missense change involving the alteration of a conserved nucleotide. One in silico tool predicts a damaging outcome for this variant. This variant was found in 570/100068 control chromosomes at a frequency of 0.0056961, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000538684 SCV000640639 likely benign Nemaline myopathy 2 2017-12-13 criteria provided, single submitter clinical testing

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