Submissions for variant NM_017882.3(CLN6):c.199-5C>T

gnomAD frequency: 0.00006  dbSNP: rs371705916

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084695	SCV001004918	likely benign	Neuronal ceroid lipofuscinosis	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000864156	SCV001149503	uncertain significance	not provided	2016-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000864156	SCV001861597	likely benign	not provided	2021-07-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415998	SCV002717622	uncertain significance	Inborn genetic diseases	2018-02-21	criteria provided, single submitter	clinical testing	The c.199-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 3 in the CLN6 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000864156	SCV001963362	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000864156	SCV001975129	likely benign	not provided		no assertion criteria provided	clinical testing