ClinVar Miner

Submissions for variant NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His)

gnomAD frequency: 0.01054  dbSNP: rs73219719
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Total submissions: 4
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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 RCV000438546 SCV000510769 benign not provided 2017-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000438546 SCV001718133 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502457 SCV002805365 likely benign Calcium oxalate urolithiasis 2022-05-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000438546 SCV005306362 benign not provided criteria provided, single submitter not provided

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