ClinVar Miner

Submissions for variant NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)

gnomAD frequency: 0.01311  dbSNP: rs199951144
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573120 SCV001826152 likely benign not provided 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001573120 SCV002433454 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003754909 SCV004564782 benign Osteogenesis imperfecta type 16 2023-03-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573120 SCV005224247 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573120 SCV001798496 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579648 SCV001808012 benign not specified no assertion criteria provided clinical testing

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