ClinVar Miner

Submissions for variant NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs)

dbSNP: rs568247949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000850389 SCV005442222 uncertain significance Structural heart defects and renal anomalies syndrome 2024-12-19 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850389 SCV000992576 likely pathogenic Structural heart defects and renal anomalies syndrome 2019-07-01 criteria provided, single submitter research ACMG codes: PVS1, PM2

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