ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2113T>C (p.Tyr705His)

dbSNP: rs2142380766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753290 SCV002007277 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465902 SCV002760829 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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