ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1760A>G (p.Asn587Ser)

dbSNP: rs1562940963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709956 SCV000840317 not provided Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 no assertion provided phenotyping only 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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