ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1850C>T (p.Pro617Leu)

gnomAD frequency: 0.00085  dbSNP: rs45444391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083831 SCV000634938 likely benign Epileptic encephalopathy 2024-01-25 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845014 SCV000986846 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06/15/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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