ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3874-13_3874-10del

dbSNP: rs763460455
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106082 SCV002434840 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480981 SCV002799014 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-27 criteria provided, single submitter clinical testing

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