ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.588T>G (p.Gly196=)

gnomAD frequency: 0.00111  dbSNP: rs144458105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703599 SCV000518588 likely benign not provided 2021-08-25 criteria provided, single submitter clinical testing
Invitae RCV000861968 SCV001002392 benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-04 criteria provided, single submitter clinical testing

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