ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)

gnomAD frequency: 0.00006  dbSNP: rs758242849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318484 SCV000339192 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001368237 SCV001564623 benign Bethlem myopathy 1A 2024-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000318484 SCV001764066 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing Reported in the heterozygous state in a patient with LGMD1A (Nallamilli et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30564623)
Revvity Omics, Revvity RCV000318484 SCV003833763 uncertain significance not provided 2019-05-14 criteria provided, single submitter clinical testing

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