ClinVar Miner

Submissions for variant NC_000009.12:g.35657786G>A

dbSNP: rs1193906088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704066 SCV000832999 uncertain significance Anauxetic dysplasia 2022-08-23 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: 580506). This variant has been observed in individual(s) with clinical features of RMRP-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant occurs in the RMRP gene, which encodes an RNA molecule that does not result in a protein product.

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