Submissions for variant NM_001173990.3(TMEM216):c.432-11_432-10insA

gnomAD frequency: 0.83974  dbSNP: rs11382548

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154006	SCV000203633	benign	not specified	2014-04-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270481	SCV000372640	benign	Meckel-Gruber syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325554	SCV000372641	benign	Familial aplasia of the vermis	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588729	SCV000697777	benign	not provided	2016-05-02	criteria provided, single submitter	clinical testing	Variant summary: The c.432-11_432-10insA variant results in insertion of a nucleotide at an intronic location that is not widely known to affect splicing. Mutation taster predicts polymorphism outcome for this variant. 4/5 splice-tools in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. This variant is found in 100404/116840 control chromosomes (43189 homozygotes) at a frequency of 0.859329, which significantly exceeds the maximal expected frequency of a pathogenic allele (0.0038528), suggesting this variant is a benign polymorphism. In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.
GeneDx	RCV000588729	SCV000730167	benign	not provided	2019-11-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000988564	SCV001138330	benign	Joubert syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000325554	SCV001721626	benign	Familial aplasia of the vermis	2022-10-07	criteria provided, single submitter	clinical testing