ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser)

gnomAD frequency: 0.00003  dbSNP: rs992204564
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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) RCV000592270 SCV000702965 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001325100 SCV001516078 likely benign Bethlem myopathy 1A 2022-11-17 criteria provided, single submitter clinical testing

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