ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287265 SCV002577507 uncertain significance Bone mineral density quantitative trait locus 18 2022-06-23 criteria provided, single submitter clinical testing PM2, PP3
SIB Swiss Institute of Bioinformatics RCV003985027 SCV004801367 uncertain significance Hernia, anterior diaphragmatic 2024-03-03 criteria provided, single submitter curation This variant is interpreted for Diaphragmatic hernia 5, X-linked. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in gnomAD (PM2). Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).

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