ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.22G>A (p.Val8Ile)

gnomAD frequency: 0.00043  dbSNP: rs115387731
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000879586 SCV001022626 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2023-12-17 criteria provided, single submitter clinical testing

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