ClinVar Miner

Submissions for variant NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu)

gnomAD frequency: 0.00257  dbSNP: rs35464830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004705018 SCV005222239 likely benign not provided criteria provided, single submitter not provided
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201388 SCV000240008 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing

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