ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)

gnomAD frequency: 0.00002  dbSNP: rs141708554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001597548 SCV001832316 uncertain significance not provided 2019-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488438 SCV002791059 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002592516 SCV003244463 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-08-08 criteria provided, single submitter clinical testing

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