ClinVar Miner

Submissions for variant NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser)

gnomAD frequency: 0.02699  dbSNP: rs73464035
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949773 SCV001096041 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000949773 SCV001949630 benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000949773 SCV005320166 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001796323 SCV002035198 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000949773 SCV002036153 likely benign not provided no assertion criteria provided clinical testing

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