ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6374G>A (p.Arg2125Gln)

gnomAD frequency: 0.00359  dbSNP: rs145866788
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533889 SCV000635025 benign Epileptic encephalopathy 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419943 SCV004144669 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FASN: BP4, BS2

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