ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.823-4G>C

gnomAD frequency: 0.00067  dbSNP: rs558325262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904710 SCV001049246 likely benign Combined malonic and methylmalonic acidemia 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904710 SCV001457753 uncertain significance Combined malonic and methylmalonic acidemia 2020-01-24 no assertion criteria provided clinical testing

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