ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1674C>T (p.Pro558=)

gnomAD frequency: 0.00006  dbSNP: rs578167693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653152 SCV001871354 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073054 SCV002400085 likely benign Osteogenesis imperfecta type I 2024-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405273 SCV002714385 likely benign Cardiovascular phenotype 2019-06-10 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237946 SCV005883045 benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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