ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)

gnomAD frequency: 0.00002  dbSNP: rs747338200
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460962 SCV001664846 likely benign Combined malonic and methylmalonic acidemia 2023-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001460962 SCV001781380 uncertain significance Combined malonic and methylmalonic acidemia 2021-07-14 criteria provided, single submitter clinical testing

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