ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)

gnomAD frequency: 0.00005  dbSNP: rs202087501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866492 SCV002123610 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482458 SCV002781084 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-19 criteria provided, single submitter clinical testing

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