Submissions for variant NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)

gnomAD frequency: 0.00002  dbSNP: rs201835072

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727644	SCV000854933	uncertain significance	not provided	2017-09-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001304517	SCV001493802	benign	Bethlem myopathy 1A	2024-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002533079	SCV003717752	uncertain significance	Inborn genetic diseases	2022-06-24	criteria provided, single submitter	clinical testing	The c.2797G>A (p.G933S) alteration is located in exon 35 (coding exon 35) of the COL6A1 gene. This alteration results from a G to A substitution at nucleotide position 2797, causing the glycine (G) at amino acid position 933 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000727644	SCV003833817	uncertain significance	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000727644	SCV001800287	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727644	SCV001972032	likely benign	not provided		no assertion criteria provided	clinical testing