ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1956A>G (p.Glu652=)

dbSNP: rs1686129480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813141 SCV001473864 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770449 SCV004582057 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-11-18 criteria provided, single submitter clinical testing

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