ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=)

gnomAD frequency: 0.00001  dbSNP: rs377703930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002321403 SCV002631963 likely benign Cardiovascular phenotype 2020-02-12 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 RCV004700726 SCV005203468 likely benign not specified 2024-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005096468 SCV005831731 benign Osteogenesis imperfecta type I 2024-09-04 criteria provided, single submitter clinical testing

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