ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)

gnomAD frequency: 0.00001  dbSNP: rs745847824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419140 SCV000530243 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000727527 SCV000709485 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805079 SCV000945022 benign Bethlem myopathy 1A 2023-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727527 SCV004702605 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing COL6A1: BP4, BP7

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