ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) (rs745404679)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231689 SCV000291288 likely benign Multiple endocrine neoplasia, type 1 2020-01-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000679251 SCV000338793 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575915 SCV000664573 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-22 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Other data supporting benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
PreventionGenetics,PreventionGenetics RCV000679251 SCV000805922 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
Mendelics RCV000231689 SCV000838449 uncertain significance Multiple endocrine neoplasia, type 1 2018-07-02 criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735331 SCV000854485 uncertain significance Leukodystrophy; Dystonia; Developmental regression; Abnormality of the cerebral white matter criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679251 SCV001248411 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231689 SCV001260066 uncertain significance Multiple endocrine neoplasia, type 1 2019-07-29 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001103324 SCV001260067 uncertain significance Hyperparathyroidism 2019-07-29 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.

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