ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.284C>T (p.Thr95Met)

gnomAD frequency: 0.00001  dbSNP: rs769697782
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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) RCV000309154 SCV000345034 uncertain significance not provided 2016-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001365391 SCV001561660 likely benign Bethlem myopathy 1A 2023-12-09 criteria provided, single submitter clinical testing

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