ClinVar Miner

Submissions for variant NC_000009.12:g.35658039T>G

gnomAD frequency: 0.00003  dbSNP: rs563106486
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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 RCV000798440 SCV000938057 uncertain significance Anauxetic dysplasia 2022-06-19 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 644504). This variant has not been reported in the literature in individuals affected with RMRP-related conditions. This variant is present in population databases (rs563106486, gnomAD 0.01%). This variant occurs in the RMRP gene, which encodes an RNA molecule that does not result in a protein product.
Fulgent Genetics, Fulgent Genetics RCV002477825 SCV002779458 uncertain significance Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 2022-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825570 SCV002075608 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2021-01-20 no assertion criteria provided clinical testing

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