ClinVar Miner

Submissions for variant NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)

gnomAD frequency: 0.00006  dbSNP: rs121909065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000023199 SCV001527019 uncertain significance Obesity 2018-04-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000023199 SCV000044490 risk factor Obesity 2004-12-01 no assertion criteria provided literature only

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