ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)

gnomAD frequency: 0.00004  dbSNP: rs368641951
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703514 SCV000832417 likely benign Bethlem myopathy 1A 2022-10-08 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000703514 SCV002059473 uncertain significance Bethlem myopathy 1A 2020-04-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144563 SCV003832482 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003144563 SCV004149941 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026631 SCV004929512 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.2153G>A (p.S718N) alteration is located in exon 26 (coding exon 25) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 2153, causing the serine (S) at amino acid position 718 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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