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

gnomAD frequency: 0.00010  dbSNP: rs146990448

Total submissions: 5

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
Labcorp Genetics (formerly Invitae), Labcorp	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.
CeGaT Center for Human Genetics Tuebingen	RCV000340512	SCV005074146	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	PMM2: BP4, BP7
Natera, Inc.	RCV001079424	SCV001452681	benign	PMM2-congenital disorder of glycosylation	2019-10-28	no assertion criteria provided	clinical testing