ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.154A>G

dbSNP: rs1428585182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666623 SCV000790944 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2017-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263928 SCV002545679 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing RMRP: PM2, PM3
Fulgent Genetics, Fulgent Genetics RCV002485532 SCV002786141 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2021-10-07 criteria provided, single submitter clinical testing

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