ClinVar Miner

Submissions for variant NM_018359.5(UFSP2):c.-33C>T

gnomAD frequency: 0.60217  dbSNP: rs2289720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245244 SCV002513880 benign Spondyloepimetaphyseal dysplasia, di rocco type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245243 SCV002515108 benign Hip dysplasia, Beukes type 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716892 SCV005306550 benign not provided criteria provided, single submitter not provided

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