ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.2155G>A (p.Glu719Lys)

gnomAD frequency: 0.00551  dbSNP: rs12946178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514431 SCV000609847 likely benign not provided 2017-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083145 SCV000634945 benign Epileptic encephalopathy 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514431 SCV004144677 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FASN: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000514431 SCV005214801 likely benign not provided criteria provided, single submitter not provided

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