ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)

gnomAD frequency: 0.00039  dbSNP: rs78365682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252161 SCV000310138 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089253 SCV000657237 likely benign Bethlem myopathy 1A 2024-11-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730871 SCV000858638 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing

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