Submissions for variant NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)

gnomAD frequency: 0.00023  dbSNP: rs143531636

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443614	SCV000536623	likely benign	not provided	2021-04-07	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001334964	SCV001527981	uncertain significance	Fibrochondrogenesis 1	2018-05-18	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV000443614	SCV001658844	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000443614	SCV003831142	uncertain significance	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022530	SCV004926771	uncertain significance	Inborn genetic diseases	2024-01-19	criteria provided, single submitter	clinical testing	The c.4718C>T (p.S1573L) alteration is located in exon 63 (coding exon 63) of the COL11A1 gene. This alteration results from a C to T substitution at nucleotide position 4718, causing the serine (S) at amino acid position 1573 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.