ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1008C>T (p.Gly336=)

gnomAD frequency: 0.00117  dbSNP: rs146077746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555716 SCV000654866 benign Short-rib thoracic dysplasia 11 with or without polydactyly 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV004787896 SCV005401413 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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