Submissions for variant NR_003051.4(RMRP):n.17C>T

gnomAD frequency: 0.00002  dbSNP: rs772664375

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001242336	SCV001415417	uncertain significance	Anauxetic dysplasia	2024-01-02	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 (rs772664375, gnomAD 0.01%). 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: 967428). 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.
Undiagnosed Diseases Network, NIH	RCV001598684	SCV001827223	uncertain significance	Metaphyseal chondrodysplasia, McKusick type	2021-06-03	criteria provided, single submitter	clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	RCV001598684	SCV002512076	uncertain significance	Metaphyseal chondrodysplasia, McKusick type	2022-04-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001598684	SCV002077561	uncertain significance	Metaphyseal chondrodysplasia, McKusick type	2020-01-17	no assertion criteria provided	clinical testing