ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.430T>G (p.Phe144Val)

gnomAD frequency: 0.00021  dbSNP: rs62636262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242505 SCV001415597 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-12-16 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001588920 SCV001816093 likely pathogenic Retinitis pigmentosa 12 2021-06-07 criteria provided, single submitter clinical testing
Retina International RCV000086355 SCV000118501 not provided not provided no assertion provided not provided
Natera, Inc. RCV001826780 SCV002090111 uncertain significance Leber congenital amaurosis 2020-02-18 no assertion criteria provided clinical testing

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