ClinVar Miner

Submissions for variant NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=)

gnomAD frequency: 0.00100  dbSNP: rs145397970
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Total submissions: 3
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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 RCV000151835 SCV000200308 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Asn365Asn in Exon 08 of SERPINB6: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.3% (23/5696) F innish chromosomes and in 0.2% (156/66564) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145397970) .
Labcorp Genetics (formerly Invitae), Labcorp RCV000930110 SCV001075755 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965132 SCV004793743 likely benign SERPINB6-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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