ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1488+10C>T

gnomAD frequency: 0.00003  dbSNP: rs766274915
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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) RCV000733831 SCV000861931 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768237 SCV004668721 likely benign Cranioectodermal dysplasia 1 2023-11-14 criteria provided, single submitter clinical testing

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