ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser)

gnomAD frequency: 0.00001  dbSNP: rs766119429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988800 SCV002285355 benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138014 SCV003816146 uncertain significance Developmental and epileptic encephalopathy, 64 2020-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289358 SCV003961300 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.398A>G (p.N133S) alteration is located in exon 6 (coding exon 4) of the RHOBTB2 gene. This alteration results from a A to G substitution at nucleotide position 398, causing the asparagine (N) at amino acid position 133 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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