ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1962T>C (p.Asn654=)

dbSNP: rs1574721263
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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 RCV001441808 SCV001644745 likely benign Bethlem myopathy 1A 2022-03-09 criteria provided, single submitter clinical testing

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