ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2137-1G>A

dbSNP: rs2132902301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561289 SCV001783859 pathogenic not provided 2019-02-28 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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