ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003009036 SCV003296104 likely benign Bethlem myopathy 1A 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002999656 SCV003603928 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.3371C>A (p.A1124E) alteration is located in exon 8 (coding exon 7) of the COL6A3 gene. This alteration results from a C to A substitution at nucleotide position 3371, causing the alanine (A) at amino acid position 1124 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003146717 SCV003832970 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing

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