ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.5008A>G (p.Ile1670Val)

dbSNP: rs1273803183
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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 RCV002778535 SCV003591657 uncertain significance Inborn genetic diseases 2021-11-30 criteria provided, single submitter clinical testing The c.5008A>G (p.I1670V) alteration is located in exon 31 (coding exon 31) of the NBEA gene. This alteration results from a A to G substitution at nucleotide position 5008, causing the isoleucine (I) at amino acid position 1670 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135237 SCV003813466 uncertain significance Neurodevelopmental disorder with or without early-onset generalized epilepsy 2019-11-07 criteria provided, single submitter clinical testing

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