ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.731del (p.Gly244fs)

dbSNP: rs878853244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000225074 SCV000282024 pathogenic Glutaric aciduria, type 1 2016-03-28 no assertion criteria provided clinical testing

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