ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.1134+11G>A (rs141935493)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000578181 SCV001024168 benign Maternal riboflavin deficiency 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000578181 SCV000680037 pathogenic Maternal riboflavin deficiency 2018-03-07 no assertion criteria provided literature only

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