ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.886G>A (p.Val296Met)

gnomAD frequency: 0.17701  dbSNP: rs2304445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094663 SCV001720069 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001696232 SCV001916415 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810052 SCV002057652 benign Ariboflavinosis 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696232 SCV005254807 benign not provided criteria provided, single submitter not provided

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