ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=)

gnomAD frequency: 0.00001  dbSNP: rs766059440
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659362 SCV000781173 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000820974 SCV000961713 likely benign Osteogenesis imperfecta type I 2024-01-04 criteria provided, single submitter clinical testing

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