ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) (rs386833764)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000079448 SCV000111327 benign not specified 2013-04-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079448 SCV000306453 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406351 SCV000447711 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283827 SCV000447712 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001650887 SCV000714186 benign not provided 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000860069 SCV000999990 benign Joubert syndrome; Meckel-Gruber syndrome 2020-12-06 criteria provided, single submitter clinical testing
Mendelics RCV000987415 SCV001136705 likely benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001650887 SCV001869732 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 21068128, 21866095, 22241855)
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049728 SCV000082135 probable-pathogenic Meckel syndrome type 6 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079448 SCV001740925 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000079448 SCV001925527 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001650887 SCV001928935 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079448 SCV001973574 benign not specified no assertion criteria provided clinical testing

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