ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.691-11del

dbSNP: rs34729771
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178237 SCV000230281 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178237 SCV000310827 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382725 SCV000372456 benign Fetal akinesia deformation sequence 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288381 SCV000372457 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001704850 SCV000729981 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795297 SCV002033441 benign Fetal akinesia deformation sequence 2 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795296 SCV002033442 benign Congenital myasthenic syndrome 11 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054108 SCV002447114 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275246 SCV001460217 benign Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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