ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)

gnomAD frequency: 0.00867  dbSNP: rs34369939
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243249 SCV000310285 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000443247 SCV000511024 likely benign not provided 2017-01-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082408 SCV000656199 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000443247 SCV001829500 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243249 SCV002069830 benign not specified 2017-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000443247 SCV002586127 benign not provided 2024-08-01 criteria provided, single submitter clinical testing COL12A1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000443247 SCV005222215 likely benign not provided criteria provided, single submitter not provided

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