ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)

gnomAD frequency: 0.00098  dbSNP: rs143753228
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 RCV000880192 SCV001023271 likely benign Methylmalonic aciduria and homocystinuria type cblD 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000880192 SCV001461404 likely benign Methylmalonic aciduria and homocystinuria type cblD 2020-04-30 no assertion criteria provided clinical testing

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