ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.561C>T (p.Val187=)

gnomAD frequency: 0.00011  dbSNP: rs113731967
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462644 SCV001666568 likely benign Combined malonic and methylmalonic acidemia 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279217 SCV001466300 uncertain significance Methylmalonic acidemia 2020-10-30 no assertion criteria provided clinical testing

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