ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991469 SCV001142883 pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/278276 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. 3 de novo cases without parental identity confirmed.

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