ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1883A>T (p.Asn628Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004443865 SCV004938992 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.1883A>T (p.N628I) alteration is located in exon 15 (coding exon 15) of the RELN gene. This alteration results from a A to T substitution at nucleotide position 1883, causing the asparagine (N) at amino acid position 628 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005216209 SCV005852348 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-03-16 criteria provided, single submitter clinical testing

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