ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly)

gnomAD frequency: 0.00506  dbSNP: rs145618122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000302517 SCV000337832 benign not specified 2015-11-30 criteria provided, single submitter clinical testing
Invitae RCV000882069 SCV001025287 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882069 SCV004138451 benign not provided 2023-07-01 criteria provided, single submitter clinical testing SLC27A5: BP4, BS1, BS2

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