ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)

gnomAD frequency: 0.00002  dbSNP: rs371614773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596600 SCV000703264 uncertain significance not provided 2016-12-14 criteria provided, single submitter clinical testing
Invitae RCV001040461 SCV001204037 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596600 SCV002497546 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing RELN: PM2:Supporting, BP4, BP5
Ambry Genetics RCV002532410 SCV003579211 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.6106G>A (p.A2036T) alteration is located in exon 41 (coding exon 41) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 6106, causing the alanine (A) at amino acid position 2036 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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