ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.896T>A (p.Val299Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990065 SCV004806332 likely pathogenic 8q24.3 microdeletion syndrome 2024-03-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992826 SCV004810492 likely pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing PUF60: PM2, PS2:Moderate, PP2, PP3

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