ClinVar Miner

Submissions for variant NM_004568.6(SERPINB6):c.457G>A (p.Gly153Ser)

gnomAD frequency: 0.00108  dbSNP: rs2295766
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037110 SCV000060767 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly153Ser in Exon 06 of SERPINB6: This variant is not expected to have clinical significance because it has been identified in 5.0% (5/100) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs 2295766).
GeneDx RCV000948728 SCV000718872 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000948728 SCV001094950 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000948728 SCV001145736 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974877 SCV004790304 benign SERPINB6-related disorder 2019-09-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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