ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=)

gnomAD frequency: 0.00008  dbSNP: rs148113339
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253186 SCV000314432 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000868339 SCV001812822 likely benign not provided 2019-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058337 SCV002355515 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-12-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000868339 SCV002506072 likely benign not provided 2022-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487138 SCV002795017 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-09-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000868339 SCV005256431 likely benign not provided criteria provided, single submitter not provided

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