Submissions for variant NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)

gnomAD frequency: 0.00011  dbSNP: rs761806977

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518720	SCV000613844	benign	not specified	2017-04-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727082	SCV000705490	uncertain significance	not provided	2017-01-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727082	SCV002282970	benign	not provided	2023-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002525043	SCV003686680	uncertain significance	Inborn genetic diseases	2022-07-12	criteria provided, single submitter	clinical testing	The c.23C>G (p.S8W) alteration is located in exon 1 (coding exon 1) of the KCNC3 gene. This alteration results from a C to G substitution at nucleotide position 23, causing the serine (S) at amino acid position 8 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000727082	SCV004033698	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	KCNC3: PP2, PP3, BS1
PreventionGenetics, part of Exact Sciences	RCV003942692	SCV004772163	likely benign	KCNC3-related disorder	2020-03-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).