ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.579T>C (p.Asp193=)

dbSNP: rs1382054822
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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 RCV001395372 SCV001597082 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222318 SCV003916539 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CRB1: PM2:Supporting, BP4, BP7
Genome-Nilou Lab RCV003451705 SCV004178826 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451706 SCV004178827 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451704 SCV004178829 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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