ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val)

gnomAD frequency: 0.00001  dbSNP: rs1311630536
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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 RCV001323254 SCV001514162 likely benign Bethlem myopathy 1A 2022-10-05 criteria provided, single submitter clinical testing

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