ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val)

gnomAD frequency: 0.00120  dbSNP: rs143490747
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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) RCV000176772 SCV000228486 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391779 SCV001593410 likely benign Cranioectodermal dysplasia 1 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710568 SCV005257737 likely benign not provided criteria provided, single submitter not provided

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