ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.9494-5C>T

dbSNP: rs886043555
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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) RCV000320923 SCV000340672 uncertain significance not provided 2016-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003631110 SCV004552753 likely benign Bethlem myopathy 1A 2023-08-27 criteria provided, single submitter clinical testing

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