ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.933A>G (p.Thr311=)

gnomAD frequency: 0.00020  dbSNP: rs138798955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205762 SCV000260618 benign Jeune thoracic dystrophy 2024-01-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000395322 SCV000337642 benign not specified 2015-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003600369 SCV004563147 benign Asphyxiating thoracic dystrophy 2 2023-02-10 criteria provided, single submitter clinical testing

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