ClinVar Miner

Submissions for variant NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr)

gnomAD frequency: 0.00001  dbSNP: rs761695007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332768 SCV001525177 uncertain significance Microphthalmia, isolated, with coloboma 9 2019-02-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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