ClinVar Miner

Submissions for variant NM_023935.3(DDRGK1):c.511-10A>G

gnomAD frequency: 0.41268  dbSNP: rs2295552
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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 RCV001661377 SCV001876608 benign Spondyloepimetaphyseal dysplasia, Shohat type 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073081 SCV002346694 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002073081 SCV005309339 benign not provided criteria provided, single submitter not provided

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