ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.669+20C>T

gnomAD frequency: 0.00392  dbSNP: rs200305844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720087 SCV000520338 benign not provided 2018-03-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001720087 SCV001472481 likely benign not provided 2020-01-31 criteria provided, single submitter clinical testing
Invitae RCV001511224 SCV001718432 benign Methylcobalamin deficiency type cblG 2024-01-31 criteria provided, single submitter clinical testing

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