ClinVar Miner

Submissions for variant NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs)

dbSNP: rs369839371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596199 SCV000705408 benign not specified 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV000883989 SCV001027338 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915714 SCV004731874 likely benign C1QTNF5-related disorder 2024-02-01 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).

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