ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=) (rs34617762)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712263 SCV000842709 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392601 SCV000373753 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000250921 SCV000929644 benign not specified no assertion criteria provided literature only
Invitae RCV000538162 SCV000642323 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000250921 SCV000539347 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2.1% of Finnish chromosomes in ExAC
PreventionGenetics RCV000250921 SCV000308715 benign not specified criteria provided, single submitter clinical testing

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