ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1333-8C>T

gnomAD frequency: 0.00017  dbSNP: rs199555550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001083197 SCV000463868 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000838307 SCV000980173 likely benign not provided 2018-04-09 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 RCV000838307 SCV001017333 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276750 SCV001463278 benign Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2019-11-11 no assertion criteria provided clinical testing

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