ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.125_126dup

dbSNP: rs1554651193
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668582 SCV000793208 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2017-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507162 SCV002816178 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2021-12-30 criteria provided, single submitter clinical testing

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