ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.158G>C

gnomAD frequency: 0.17549  dbSNP: rs7021463
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127793 SCV000171373 benign not specified 2013-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521910 SCV001731330 benign Anauxetic dysplasia 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001701681 SCV005272641 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273828 SCV001457383 benign Metaphyseal chondrodysplasia, McKusick type 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701681 SCV001929236 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127793 SCV001954735 benign not specified no assertion criteria provided clinical testing

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