ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.371C>T (p.Ala124Val)

gnomAD frequency: 0.00426  dbSNP: rs146289149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429038 SCV000511280 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090698 SCV001104338 benign not provided 2024-12-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000429038 SCV005254811 benign not provided criteria provided, single submitter not provided

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