ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1743C>T (p.Asp581=)

gnomAD frequency: 0.00006  dbSNP: rs200990862
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002080927 SCV002371151 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494158 SCV002801628 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-10-20 criteria provided, single submitter clinical testing

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