ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)

gnomAD frequency: 0.00014  dbSNP: rs372154635
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726233 SCV000343106 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000357364 SCV000613015 uncertain significance not specified 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536787 SCV000657378 likely benign Bethlem myopathy 1A 2023-11-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000726233 SCV001714682 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000726233 SCV001992477 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Previously reported as a variant of uncertain significance in an individual with a clinical diagnosis of LGMD (Nallamilli et al., 2018); This variant is associated with the following publications: (PMID: 30564623)
Revvity Omics, Revvity RCV000726233 SCV003834633 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing

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