ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)

gnomAD frequency: 0.00002  dbSNP: rs118204044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147271 SCV003836324 likely pathogenic Methylmalonic aciduria and homocystinuria type cblD 2024-03-20 criteria provided, single submitter clinical testing
OMIM RCV000000797 SCV000020947 pathogenic HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE 2008-04-03 no assertion criteria provided literature only

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