ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6064-4G>A

gnomAD frequency: 0.00001  dbSNP: rs762819140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002188473 SCV002484314 likely benign Bethlem myopathy 1A 2021-05-31 criteria provided, single submitter clinical testing

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