ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1938_1939delinsT (p.Val647fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center RCV002283587 SCV002572495 pathogenic Abnormal circulating lipid concentration no assertion criteria provided clinical testing

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