ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) (rs187396540)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884992 SCV001028408 benign Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276657 SCV001463147 benign Cystinosis 2020-09-16 no assertion criteria provided clinical testing

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