ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.90G>A (p.Ser30=)

gnomAD frequency: 0.00004  dbSNP: rs765167328
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 RCV000864165 SCV001004931 likely benign Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000864165 SCV001463170 uncertain significance Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2020-03-10 no assertion criteria provided clinical testing

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