ClinVar Miner

Submissions for variant NM_001204375.2(NPR3):c.691_692del (p.Thr231fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Pediatric Genetics Laboratory, Hacettepe University RCV004698890 SCV004697973 likely pathogenic Boudin-Mortier syndrome 2024-03-04 criteria provided, single submitter clinical testing Homozygous c.691_692del (p.Thr231ValfsTer24) variant in NPR3 gene is classified as “likely pathogenic” according to the ACMG 2015 criteria (PVS1, PM2) and absent in gnomAD browser.

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