ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)

gnomAD frequency: 0.00043  dbSNP: rs780294227
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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 RCV000935748 SCV001081500 likely benign Combined malonic and methylmalonic acidemia 2023-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279222 SCV001466305 likely benign Methylmalonic acidemia 2020-11-06 no assertion criteria provided clinical testing

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