ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2559G>A (p.Leu853=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003611428 SCV004516533 likely benign Cranioectodermal dysplasia 1 2023-02-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003611428 SCV005661372 uncertain significance Cranioectodermal dysplasia 1 2024-04-15 criteria provided, single submitter clinical testing

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