ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.33G>A (p.Pro11=)

dbSNP: rs779289416
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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 RCV001112692 SCV001270381 uncertain significance Hyperimmunoglobulin D with periodic fever 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001112693 SCV001270382 uncertain significance Mevalonic aciduria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV003769133 SCV004569964 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890254 SCV004707720 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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