ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.1774A>G (p.Met592Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV003405217 SCV004801369 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). Cosegregation with disease in multiple affected family members (PP1).
OMIM RCV003405217 SCV004123122 pathogenic Hernia, anterior diaphragmatic 2023-11-15 no assertion criteria provided literature only

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