ClinVar Miner

Submissions for variant NM_014290.3(TDRD7):c.1341C>T (p.Thr447=)

gnomAD frequency: 0.00034  dbSNP: rs143511562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455952 SCV001659723 likely benign Cataract 36 2019-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706181 SCV005222485 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003973317 SCV004794493 likely benign TDRD7-related disorder 2019-05-01 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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