ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)

gnomAD frequency: 0.00001  dbSNP: rs776493521
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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) RCV000262259 SCV000339483 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467177 SCV001671197 likely benign Bethlem myopathy 1A 2022-07-26 criteria provided, single submitter clinical testing

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