ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.97G>A

gnomAD frequency: 0.00001  dbSNP: rs970510851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685511 SCV000812994 uncertain significance Anauxetic dysplasia 2021-06-05 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with RMRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 565846). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change 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 RCV002477523 SCV002801523 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2022-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829893 SCV002077541 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2020-02-10 no assertion criteria provided clinical testing

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