ClinVar Miner

Submissions for variant NM_183381.3(RNF13):c.789C>T (p.His263=)

gnomAD frequency: 0.63113  dbSNP: rs6768054
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641128 SCV001857735 benign not provided 2019-03-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796629 SCV002033648 benign Developmental and epileptic encephalopathy, 73 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001641128 SCV002409568 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001641128 SCV005305133 benign not provided criteria provided, single submitter not provided

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