ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.77C>T

gnomAD frequency: 0.00001  dbSNP: rs902757638
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002238724 SCV002512075 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2022-04-01 criteria provided, single submitter clinical testing

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