ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.117C>T (p.Thr39=)

gnomAD frequency: 0.00050  dbSNP: rs143929144
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000949459 SCV001095712 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275289 SCV001460289 likely benign Leber congenital amaurosis 2020-05-01 no assertion criteria provided clinical testing

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