ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.1417-22T>C

gnomAD frequency: 0.85170  dbSNP: rs306769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001688706 SCV001915331 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703056 SCV001934014 benign Finnish type amyloidosis 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001688706 SCV005323152 benign not provided criteria provided, single submitter not provided

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