ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)

gnomAD frequency: 0.00026  dbSNP: rs143755280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000362676 SCV000337175 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553483 SCV000656996 likely benign Bethlem myopathy 1A 2023-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000362676 SCV000983575 likely benign not provided 2018-04-06 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.

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