ClinVar Miner

Submissions for variant NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter)

gnomAD frequency: 0.00009  dbSNP: rs536555705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000315952 SCV000335494 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000315952 SCV001508817 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003608 SCV002778964 likely benign Hypersulfaturia; Nephrolithiasis susceptibility caused by SLC26A1 2024-02-07 criteria provided, single submitter clinical testing
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV004760472 SCV005368646 pathogenic Nephrolithiasis susceptibility caused by SLC26A1 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Disease_causing/CADD:Damaging/phyloP:Conserved/phastCons:Conserved/gnomAD_exome_EastAsian:0.0026/ExAC_EastAsian:0.0042/dbSNP:rs536555705

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