ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.1617+5G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV004759742 SCV005368656 likely pathogenic Cystinuria 2024-08-26 no assertion criteria provided clinical testing Variant_type:truncating/MutationTaster:NONE/CADD:NONE/phyloP:NONE/phastCons:NONE/gnomAD_exome_EastAsian:NONE/ExAC_EastAsian:NONE/dbSNP:NONE

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