ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5211-7dup

dbSNP: rs34125550
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000302634 SCV000332236 benign not specified 2015-06-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264112 SCV000465951 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001651302 SCV001864957 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000302634 SCV001929993 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001651302 SCV001971646 likely benign not provided no assertion criteria provided clinical testing

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