Submissions for variant NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)

gnomAD frequency: 0.00174  dbSNP: rs114630202

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732953	SCV000860955	benign	not specified	2018-06-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000830594	SCV000972329	likely benign	not provided	2020-09-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000830594	SCV001069079	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000732953	SCV001476347	benign	not specified	2020-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002535305	SCV003677258	uncertain significance	Inborn genetic diseases	2024-11-08	criteria provided, single submitter	clinical testing	The c.52A>T (p.T18S) alteration is located in exon 1 (coding exon 1) of the COL11A1 gene. This alteration results from a A to T substitution at nucleotide position 52, causing the threonine (T) at amino acid position 18 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV000830594	SCV005259214	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000830594	SCV005879383	likely benign	not provided	2024-08-13	criteria provided, single submitter	clinical testing