ClinVar Miner

Submissions for variant NM_005956.4(MTHFD1):c.2136+31G>A

gnomAD frequency: 0.32387  dbSNP: rs2236224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001775528 SCV002014269 benign Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715548 SCV005293323 benign not provided criteria provided, single submitter not provided

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