ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1590C>T (p.Ala530=)

gnomAD frequency: 0.00001  dbSNP: rs755545448
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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 RCV002184770 SCV002348847 likely benign Cranioectodermal dysplasia 1 2021-03-30 criteria provided, single submitter clinical testing

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