ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3463-9T>C

gnomAD frequency: 0.00001  dbSNP: rs1346976662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001822031 SCV002064173 uncertain significance not provided 2022-01-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001822031 SCV003510751 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001822031 SCV005194518 uncertain significance not provided criteria provided, single submitter not provided

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