ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3531+10C>A

gnomAD frequency: 0.00179  dbSNP: rs41316721
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178614 SCV000230729 benign not specified 2015-04-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579373 SCV000603111 benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548921 SCV000627241 benign Osteogenesis imperfecta type I 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000178614 SCV000729110 benign not specified 2017-03-22 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.
Athena Diagnostics RCV000178614 SCV001476965 benign not specified 2020-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277408 SCV002564729 benign Osteogenesis imperfecta 2022-03-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277409 SCV002565521 benign Ehlers-Danlos syndrome 2020-12-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579373 SCV005249948 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579373 SCV001806988 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000178614 SCV001975923 benign not specified no assertion criteria provided clinical testing

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