ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.70-9T>C

gnomAD frequency: 0.00003  dbSNP: rs764059061
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702656 SCV000528342 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Invitae RCV001175248 SCV001646433 likely benign Familial amyloid neuropathy 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551470 SCV004713991 likely benign TTR-related disorder 2020-09-09 criteria provided, single submitter 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).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001175248 SCV001338828 uncertain significance Familial amyloid neuropathy 2019-12-13 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000443741 SCV001922673 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702656 SCV001927943 likely benign not provided no assertion criteria provided clinical testing

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