ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)

gnomAD frequency: 0.00020  dbSNP: rs200124802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730862 SCV000725819 likely benign not provided 2019-11-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730862 SCV000858629 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079481 SCV001017417 likely benign Bethlem myopathy 1A 2024-09-02 criteria provided, single submitter clinical testing

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