ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.751A>T (p.Asn251Tyr)

gnomAD frequency: 0.00130  dbSNP: rs55822567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904223 SCV001048732 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000904223 SCV001942269 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932879 SCV004748717 likely benign FN1-related disorder 2019-08-29 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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