ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)

dbSNP: rs1553454436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tianjin Pediatric Research Institute, Tianjin Children's Hospital RCV000576880 SCV000608344 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2017-08-03 criteria provided, single submitter research

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