ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.743G>A (p.Arg248His)

gnomAD frequency: 0.00002  dbSNP: rs756858861
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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
CeGaT Center for Human Genetics Tuebingen RCV000997224 SCV001152430 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279363 SCV001466452 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2020-08-13 no assertion criteria provided clinical testing

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