ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)

gnomAD frequency: 0.07498  dbSNP: rs61740161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249204 SCV000315263 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260238 SCV000440830 likely benign Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001512051 SCV001719391 benign Cranioectodermal dysplasia 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001610744 SCV001838470 benign not provided 2018-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001512051 SCV001933282 benign Cranioectodermal dysplasia 1 2021-08-10 criteria provided, single submitter clinical testing

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