ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)

dbSNP: rs1555206402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Endocrinology Department, First Hospital Of Shanxi Medical University RCV000664186 SCV000678305 pathogenic Acute intermittent porphyria 2017-05-20 criteria provided, single submitter clinical testing

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