ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)

gnomAD frequency: 0.00002  dbSNP: rs886043269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317135 SCV000339195 uncertain significance not provided 2016-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216269 SCV001388058 likely benign Bethlem myopathy 1A 2022-08-08 criteria provided, single submitter clinical testing

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