ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.548-10T>G (rs139207271)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224372 SCV000842714 benign not provided 2017-12-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224372 SCV000280880 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000266650 SCV000373759 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533974 SCV000642363 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-11-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254133 SCV000308730 likely benign not specified criteria provided, single submitter clinical testing

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