ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)

gnomAD frequency: 0.00006  dbSNP: rs374011338
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045340 SCV001209181 benign Bethlem myopathy 1 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553120 SCV003650393 likely benign Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV003145278 SCV003832575 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003145278 SCV004149928 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing COL6A2: BP4

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