ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.612C>T (p.Pro204=)

gnomAD frequency: 0.00480  dbSNP: rs138078016
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029581 SCV000052233 likely benign Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000538715 SCV000627272 benign Osteogenesis imperfecta type I 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000611574 SCV000729033 benign not specified 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701642 SCV001470804 benign not provided 2023-10-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000029581 SCV002564744 benign Osteogenesis imperfecta 2022-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354171 SCV002657006 benign Cardiovascular phenotype 2019-08-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV000611574 SCV001919120 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701642 SCV001929467 likely benign not provided no assertion criteria provided clinical testing

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