ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.407_410del (p.Ile136fs)

dbSNP: rs1563826453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551418 SCV001771927 pathogenic not provided 2021-11-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28990276, 27804958, 31502745)
OMIM RCV000735798 SCV000863960 pathogenic 8q24.3 microdeletion syndrome 2018-12-21 no assertion criteria provided literature only

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