ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.736-7G>A

gnomAD frequency: 0.00005  dbSNP: rs375288629
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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) RCV000407705 SCV000339202 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089285 SCV001049069 likely benign Bethlem myopathy 1A 2024-07-16 criteria provided, single submitter clinical testing

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