ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2474-17A>T

gnomAD frequency: 0.00401  dbSNP: rs571901048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787007 SCV002029032 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing
Invitae RCV002074092 SCV002481961 benign Methylcobalamin deficiency type cblG 2024-01-31 criteria provided, single submitter clinical testing

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