ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1713G>T (p.Ser571=)

dbSNP: rs150174636
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389496 SCV000440821 likely benign Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536035 SCV000634670 benign Cranioectodermal dysplasia 1 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001672620 SCV001886528 benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278531 SCV002566822 benign Connective tissue disorder 2022-04-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672620 SCV005257722 likely benign not provided criteria provided, single submitter not provided

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