ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)

gnomAD frequency: 0.00003  dbSNP: rs374853330
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698284 SCV000532164 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659357 SCV000781168 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471006 SCV001675108 likely benign Osteogenesis imperfecta type I 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279205 SCV002565513 uncertain significance Ehlers-Danlos syndrome 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446732 SCV002611753 likely benign Cardiovascular phenotype 2022-08-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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