ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) (rs35193202)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000726894 SCV000885603 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing The p.Ala398Val variant (rs35193202) was reported in one patient from a cohort selected for inherited peripheral neuropathy (Antoniadi 2015). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.4 percent in the European Finnish population (identified on 93 out of 25,414 chromosomes, including 1 homozygote) and has been reported to the ClinVar database (Variation ID: 234315). Given the abundance in the general population, the p.Ala398Val variant is considered to be likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726894 SCV000703937 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000214533 SCV000278982 likely benign not specified 2018-01-18 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 RCV000407593 SCV000373776 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556927 SCV000642299 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-01-08 criteria provided, single submitter clinical testing

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