ClinVar Miner

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

gnomAD frequency: 0.22197  dbSNP: rs2295769
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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 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).
PreventionGenetics, part of Exact Sciences RCV000037108 SCV000310486 benign not specified 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.
Genome-Nilou Lab RCV001807008 SCV002054778 benign Autosomal recessive nonsyndromic hearing loss 91 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV002054640 SCV002408909 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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