ClinVar Miner

Submissions for variant NM_004568.6(SERPINB6):c.268A>G (p.Met90Val)

gnomAD frequency: 0.22672  dbSNP: rs2295769
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000037108 SCV007324858 benign not specified 2020-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054640 SCV002408909 benign not provided 2026-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807008 SCV002054778 benign Autosomal recessive nonsyndromic hearing loss 91 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000037108 SCV000717034 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000037108 SCV000310486 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037108 SCV000060765 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Met90Val in Exon 04 of SERPINB6: This variant is not expected to have clinical s ignificance because it has been identified in 30.0% (2104/7020) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs2295769).

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