ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=)

gnomAD frequency: 0.00001  dbSNP: rs777909478
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183199 SCV002422974 likely benign Bethlem myopathy 1A 2023-04-10 criteria provided, single submitter clinical testing

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