ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.-9-1967C>T

gnomAD frequency: 0.00020  dbSNP: rs372837702
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001169574 SCV001332312 benign Finnish type amyloidosis 2017-07-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV001819870 SCV002065374 likely benign not specified 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068043 SCV002394116 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002068043 SCV002585088 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GSN: BP4, BP7

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