ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=)

gnomAD frequency: 0.00004  dbSNP: rs761804539
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729151 SCV000856793 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001411344 SCV001613405 likely benign Bethlem myopathy 1A 2023-11-01 criteria provided, single submitter clinical testing

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