ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4431C>T (p.Val1477=)

gnomAD frequency: 0.00004  dbSNP: rs151289203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000296132 SCV000342091 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087823 SCV000657315 likely benign Bethlem myopathy 1A 2023-03-09 criteria provided, single submitter clinical testing

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