ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2307C>T (p.Ser769=)

gnomAD frequency: 0.00005  dbSNP: rs565364572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000279841 SCV000336306 uncertain significance not provided 2015-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452408 SCV001656070 likely benign Jeune thoracic dystrophy 2024-07-14 criteria provided, single submitter clinical testing

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