Submissions for variant NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)

gnomAD frequency: 0.00070  dbSNP: rs144358858

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000308502	SCV000337941	uncertain significance	not provided	2015-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086048	SCV000657002	likely benign	Bethlem myopathy 1A	2024-08-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000308502	SCV002031007	uncertain significance	not provided	2025-03-18	criteria provided, single submitter	clinical testing	Reported previously as heterozygous in an individual with clinically suspected limb-girdle muscular dystrophy; however, the authors classified A570T as a variant of uncertain significance and additional clinical information was not provided (PMID: 30564623); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32906206, 30564623, 37273706)
Revvity Omics, Revvity	RCV000308502	SCV003828551	uncertain significance	not provided	2021-03-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000308502	SCV004225552	uncertain significance	not provided	2023-06-07	criteria provided, single submitter	clinical testing	BS1