ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3306C>G (p.Ala1102=)

gnomAD frequency: 0.00556  dbSNP: rs34179714
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547154 SCV000634960 benign Epileptic encephalopathy 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424103 SCV004144674 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FASN: BP4, BP7

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