ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3753+10A>G

dbSNP: rs1591718533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000935815 SCV001081568 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246144 SCV002513776 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs1591718533) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246145 SCV002513777 uncertain significance Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs1591718533) in neonatal diabetes yet.

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