ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.378G>A (p.Ser126=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001279876 SCV001707723 likely benign Vitamin B12-responsive methylmalonic acidemia type cblB 2020-05-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279876 SCV001467012 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2020-08-14 no assertion criteria provided clinical testing

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