ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)

dbSNP: rs1768488927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093180 SCV001250036 likely pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226752 SCV002505768 likely pathogenic Bethlem myopathy 2 2021-08-01 criteria provided, single submitter clinical testing

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