ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1818-7del

dbSNP: rs1955709311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288415 SCV001475497 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing
Invitae RCV001288415 SCV001662209 likely benign not provided 2023-09-15 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267098 SCV002522337 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 ( rs1955709311) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267099 SCV002522338 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 ( rs1955709311) in neonatal diabetes yet.

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