ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1305A>T (p.Gly435=)

gnomAD frequency: 0.00009  dbSNP: rs34813822
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066973 SCV001231999 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001619883 SCV001843268 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455291 SCV004178912 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455292 SCV004178913 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455290 SCV004178914 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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