ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)

dbSNP: rs2062427908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV001265608 SCV001981655 uncertain significance Finnish type amyloidosis 2020-04-28 criteria provided, single submitter clinical testing
Department of Ophthalmology, Flinders Medical Centre RCV001265608 SCV001443151 uncertain significance Finnish type amyloidosis 2020-11-15 criteria provided, single submitter research
OMIM RCV001265608 SCV004028542 pathogenic Finnish type amyloidosis 2024-05-17 no assertion criteria provided literature only

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