ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1522-9C>T

gnomAD frequency: 0.00029  dbSNP: rs371576207
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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) RCV000382914 SCV000339262 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423764 SCV001626347 likely benign Bethlem myopathy 1A 2024-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000382914 SCV002575320 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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