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

dbSNP: rs386833764

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079448	SCV000111327	benign	not specified	2013-04-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079448	SCV000306453	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406351	SCV000447711	likely benign	Familial aplasia of the vermis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283827	SCV000447712	likely benign	Meckel-Gruber syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000860069	SCV000999990	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-02-01	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)
Molecular Genetics, Royal Melbourne Hospital	RCV002225078	SCV002503723	benign	COACH syndrome 1	2020-11-20	criteria provided, single submitter	clinical testing	Population allele frequency is 6.2% (rs1159391633, 13,991/225,480 alleles, 528 homozygotes in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
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