ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.1274-6C>T

gnomAD frequency: 0.00001  dbSNP: rs1048819854
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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) RCV000730163 SCV000857878 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730163 SCV002177708 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928224 SCV004740637 likely benign FSCN2-related disorder 2019-03-25 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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