ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2148T>C (p.Ser716=)

dbSNP: rs2108483305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450513 SCV001654123 likely benign Cranioectodermal dysplasia 1 2022-06-27 criteria provided, single submitter clinical testing

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