ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4581G>A (p.Pro1527=)

gnomAD frequency: 0.00011  dbSNP: rs373700033
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551306 SCV000634986 likely benign Epileptic encephalopathy 2023-11-27 criteria provided, single submitter clinical testing

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