ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-26A>G

gnomAD frequency: 0.00003  dbSNP: rs1479868789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061436 SCV001226180 uncertain significance Anauxetic dysplasia 2022-09-27 criteria provided, single submitter clinical testing This variant occurs in the RMRP gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RMRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 856051). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002479362 SCV002799596 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2022-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827389 SCV002075612 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2020-10-07 no assertion criteria provided clinical testing

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