ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.9+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV004596070 SCV005088243 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2024-07-23 criteria provided, single submitter clinical testing Sanger sequencing of cDNA from mRNA isolated from blood has shown that the variant has an effect on splicing.

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