ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=)

dbSNP: rs112873723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582172 SCV001820948 likely benign not provided 2019-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329693 SCV002627630 likely benign Cardiovascular phenotype 2019-06-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002579466 SCV003255573 likely benign Osteogenesis imperfecta type I 2022-11-08 criteria provided, single submitter clinical testing

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