ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)

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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 RCV003281805 SCV003969313 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.9628C>G (p.Q3210E) alteration is located in exon 60 (coding exon 60) of the RELN gene. This alteration results from a C to G substitution at nucleotide position 9628, causing the glutamine (Q) at amino acid position 3210 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779969 SCV004583432 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-13 criteria provided, single submitter clinical testing

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