ClinVar Miner

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

gnomAD frequency: 0.00204  dbSNP: rs141935493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232202 SCV001024168 benign Ariboflavinosis 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002232202 SCV004562100 benign Ariboflavinosis 2023-09-05 criteria provided, single submitter clinical testing
OMIM RCV002232202 SCV000680037 pathogenic Ariboflavinosis 2018-03-07 no assertion criteria provided literature only

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