ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)

gnomAD frequency: 0.00003  dbSNP: rs151309609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175100 SCV000226530 uncertain significance not provided 2014-08-21 criteria provided, single submitter clinical testing
Invitae RCV000695456 SCV000823955 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485132 SCV002777954 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-07 criteria provided, single submitter clinical testing

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