ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2712C>T (p.Val904=)

gnomAD frequency: 0.00002  dbSNP: rs780582491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733544 SCV000861623 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487062 SCV001691545 likely benign Bethlem myopathy 1A 2022-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000733544 SCV004146765 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing COL6A1: BP4, BP7

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