ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.385-3del

dbSNP: rs559429215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732659 SCV000860635 likely benign not specified 2018-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862782 SCV001003333 benign Bardet-Biedl syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV004760760 SCV005370918 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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