ClinVar Miner

Submissions for variant NM_032228.6(FAR1):c.772G>A (p.Gly258Arg)

dbSNP: rs1591268116
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985084 SCV001133044 likely pathogenic Fatty acyl-CoA reductase 1 deficiency 2019-09-26 no assertion criteria provided clinical testing

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