ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.327C>T (p.Thr109=)

gnomAD frequency: 0.00141  dbSNP: rs150554216
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002548332 SCV001116205 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002245790 SCV002810161 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2021-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271647 SCV001452949 benign Cystinosis 2020-04-23 no assertion criteria provided clinical testing

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