ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)

gnomAD frequency: 0.00001  dbSNP: rs776522454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325644 SCV000395072 uncertain significance Saldino-Mainzer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000325644 SCV003482626 likely benign Saldino-Mainzer syndrome 2022-05-20 criteria provided, single submitter clinical testing

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