ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.531C>T (p.Asn177=)

gnomAD frequency: 0.00031  dbSNP: rs767176038
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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) RCV000596951 SCV000702061 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596951 SCV000892289 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001486103 SCV001690553 likely benign Bethlem myopathy 1A 2024-09-16 criteria provided, single submitter clinical testing

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