ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.393C>T (p.Asn131=)

gnomAD frequency: 0.00001  dbSNP: rs186654124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895499 SCV001039542 likely benign not provided 2024-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501499 SCV002809596 likely benign Finnish type amyloidosis 2022-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975668 SCV004791465 likely benign GSN-related disorder 2019-04-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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