ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)

dbSNP: rs886044010
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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) RCV000357041 SCV000343020 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001502089 SCV001706912 likely benign Bethlem myopathy 1A 2022-07-19 criteria provided, single submitter clinical testing

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