ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.613T>C (p.Ter205Arg)

dbSNP: rs201498591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925744 SCV002177613 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-03-10 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. This variant has not been reported in the literature in individuals with B9D1-related conditions. This variant is present in population databases (rs201498591, ExAC 0.002%). This sequence change disrupts the translational stop signal of the B9D1 mRNA. It is expected to extend the length of the B9D1 protein by 9 additional amino acid residues.
Breakthrough Genomics, Breakthrough Genomics RCV004693950 SCV005192776 uncertain significance not provided criteria provided, single submitter not provided

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