ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)

dbSNP: rs80356634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003473072 SCV004201557 likely pathogenic Type 2 diabetes mellitus 2023-04-13 criteria provided, single submitter clinical testing
OMIM RCV001089459 SCV000029895 pathogenic Diabetes mellitus, permanent neonatal 3 2007-08-01 no assertion criteria provided literature only
GeneReviews RCV000009677 SCV000040641 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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