ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.212-1G>A

dbSNP: rs1790597003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332442 SCV001524770 likely pathogenic Autosomal dominant nonsyndromic hearing loss 5 2019-12-10 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001332442 SCV002018532 uncertain significance Autosomal dominant nonsyndromic hearing loss 5 2023-08-07 criteria provided, single submitter clinical testing
GeneDx RCV004770065 SCV005378427 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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