ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.912+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Prenatal Diagnosis Center, Inner Mongolia Medical University RCV002293282 SCV002584999 pathogenic Acute intermittent porphyria 2021-02-07 no assertion criteria provided clinical testing

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