ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1226A>C (p.Asn409Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham RCV004701235 SCV005205820 uncertain significance Sitosterolemia 2023-08-03 no assertion criteria provided clinical testing This is a novel mutation in exon 9 of ABCG8 gene. Polyphen2/ SIFT/LRT proved to be deleterious.

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