ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2181C>T (p.Leu727=)

dbSNP: rs1293610485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862601 SCV001003126 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-04-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928345 SCV004742898 likely benign TTC21B-related condition 2019-09-13 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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