ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.597C>T (p.Asp199=)

gnomAD frequency: 0.00001  dbSNP: rs200688368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001414760 SCV001616901 likely benign CHARGE association 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983221 SCV004800797 likely benign SEMA3E-related condition 2022-02-11 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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