ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)

dbSNP: rs1434279534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687032 SCV000814582 likely benign Osteogenesis imperfecta type I 2024-10-15 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844903 SCV000986709 not provided Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/15/2018 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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