ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.549T>C (p.Gly183=)

gnomAD frequency: 0.00014  dbSNP: rs141664029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249310 SCV000314434 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725867 SCV000340110 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000725867 SCV000984506 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing
Invitae RCV002058338 SCV002458135 likely benign Jeune thoracic dystrophy; Nephronophthisis 2022-08-20 criteria provided, single submitter clinical testing

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