ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)

gnomAD frequency: 0.00010  dbSNP: rs376021820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598205 SCV000709071 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804675 SCV000944595 likely benign Bethlem myopathy 1A 2023-12-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000598205 SCV005409091 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing

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