ClinVar Miner

Submissions for variant NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan RCV002508178 SCV002817420 likely pathogenic Infantile spasms 2022-12-15 no assertion criteria provided clinical testing

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