ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)

gnomAD frequency: 0.00331  dbSNP: rs142672241
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000309684 SCV000332920 likely benign not specified 2017-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000895090 SCV001039108 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000895090 SCV004183702 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SLC27A5: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000895090 SCV004225447 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing BS1
Breakthrough Genomics, Breakthrough Genomics RCV000895090 SCV005206099 likely benign not provided criteria provided, single submitter not provided

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