ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.981C>T (p.Asn327=)

gnomAD frequency: 0.00007  dbSNP: rs768836349
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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) RCV000351072 SCV000337764 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086943 SCV000657233 likely benign Bethlem myopathy 1A 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000351072 SCV003916342 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing COL6A2: BP4, BP7

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