ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)

gnomAD frequency: 0.00002  dbSNP: rs901081235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000449552 SCV000537843 uncertain significance Global developmental delay 2017-02-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526740 SCV001737199 uncertain significance Combined malonic and methylmalonic acidemia 2021-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001526740 SCV002814753 uncertain significance Combined malonic and methylmalonic acidemia 2022-04-18 criteria provided, single submitter clinical testing

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