ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.441C>T (p.Leu147=)

gnomAD frequency: 0.00010  dbSNP: rs146990448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000340512 SCV000345138 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV001079424 SCV001110492 benign PMM2-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079424 SCV001279855 uncertain significance PMM2-congenital disorder of glycosylation 2017-04-28 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.
Natera, Inc. RCV001079424 SCV001452681 benign PMM2-congenital disorder of glycosylation 2019-10-28 no assertion criteria provided clinical testing

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