ClinVar Miner

Submissions for variant NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)

dbSNP: rs8192466
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790920 SCV000930167 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
Mendelics RCV000988510 SCV001138257 uncertain significance Obesity 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002513118 SCV003256372 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914855 SCV004733347 likely benign BDNF-related condition 2022-02-01 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).
OMIM RCV000019266 SCV000039554 uncertain significance Congenital central hypoventilation 2002-02-01 no assertion criteria provided literature only

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