ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) (rs72667032)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203035 SCV000257624 benign not specified 2015-06-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224220 SCV000280785 likely benign not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000203035 SCV000332644 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
GenePathDx,Causeway Health Care Private Ltd RCV000487429 SCV000574530 uncertain significance Osteogenesis imperfecta 2016-06-01 criteria provided, single submitter clinical testing 7 years old male child, a suspected case of osteogenesis imperfecta. History of recurrent long bone fractures after trivial falls. Sclera and dentition are apparently normal. No family history of similar complaints. Next generation DNA sequencing peripheral blood sample has revealed the presence of the heterozygous variant c.613C>G in the COL1A1 gene. This variant is being called a “variant of unknown significance” based on available evidence in the databases and in silico mutation prediction methods. Kindly correlate with the family history and clinical details.
Invitae RCV000555588 SCV000627273 benign Osteogenesis imperfecta type I 2017-12-24 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659348 SCV000781159 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224220 SCV000883626 benign not provided 2018-04-12 criteria provided, single submitter clinical testing

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