ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.328G>A (p.Asp110Asn)

gnomAD frequency: 0.00002  dbSNP: rs757581728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819820 SCV000960502 uncertain significance Inflammatory bowel disease 25 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537447 SCV003547286 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.328G>A (p.D110N) alteration is located in exon 3 (coding exon 3) of the IL10RB gene. This alteration results from a G to A substitution at nucleotide position 328, causing the aspartic acid (D) at amino acid position 110 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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