ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)

gnomAD frequency: 0.00132  dbSNP: rs77729067
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Total submissions: 6
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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 RCV000825054 SCV000966256 benign not specified 2018-05-18 criteria provided, single submitter clinical testing p.Ser259Thr in exon 7 of BCS1L: This variant is classified as likely benign beca use it has been identified in 0.5% (109/23540) of African chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7772 9067). ACMG/AMP Criteria applied: BA1; BP4.
Invitae RCV000903722 SCV001048202 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000903722 SCV001945183 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000903722 SCV004225984 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing PM2
PreventionGenetics, part of Exact Sciences RCV004540123 SCV004778005 likely benign BCS1L-related disorder 2023-01-25 criteria provided, single submitter 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).
Natera, Inc. RCV001276430 SCV001462705 likely benign GRACILE syndrome 2020-04-25 no assertion criteria provided clinical testing

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