ClinVar Miner

Submissions for variant NM_000939.4(POMC):c.641A>G (p.Glu214Gly)

gnomAD frequency: 0.00552  dbSNP: rs80326661
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192320 SCV000248571 likely benign not specified 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV000953171 SCV001099727 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142527 SCV001302973 likely benign Obesity 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000953171 SCV004011128 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing POMC: BS2

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