ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.986C>T (p.Ala329Val)

gnomAD frequency: 0.00049  dbSNP: rs200915373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048099 SCV002297362 likely benign Cranioectodermal dysplasia 1 2023-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002048099 SCV002799513 uncertain significance Cranioectodermal dysplasia 1 2022-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694129 SCV005189774 uncertain significance not provided criteria provided, single submitter not provided

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