ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)

gnomAD frequency: 0.00004  dbSNP: rs969369250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714652 SCV000845370 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2018-08-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000714652 SCV003822359 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2019-05-21 criteria provided, single submitter clinical testing

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