Submissions for variant NM_000085.5(CLCNKB):c.1297+5G>T

gnomAD frequency: 0.00544  dbSNP: rs35351345

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518420	SCV000612822	uncertain significance	not specified	2017-04-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971454	SCV001119104	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000971454	SCV002513233	uncertain significance	not provided	2024-09-27	criteria provided, single submitter	clinical testing	Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000971454	SCV004124389	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CLCNKB: PP3, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000971454	SCV005409087	uncertain significance	not provided	2024-07-23	criteria provided, single submitter	clinical testing	BS1, BS2, PP3
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000518420	SCV001926633	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000971454	SCV001957992	likely benign	not provided		no assertion criteria provided	clinical testing