ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)

dbSNP: rs140510298
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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) RCV000591218 SCV000705289 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003631135 SCV004551556 likely benign Bethlem myopathy 1A 2023-04-11 criteria provided, single submitter clinical testing

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