ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1479C>T (p.Phe493=)

gnomAD frequency: 0.00001  dbSNP: rs770919155
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000882439 SCV001025678 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277520 SCV001464480 likely benign Leber congenital amaurosis 2020-10-28 no assertion criteria provided clinical testing

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