ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)

gnomAD frequency: 0.00004  dbSNP: rs759799179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367497 SCV001563849 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488138 SCV002785294 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-08-17 criteria provided, single submitter clinical testing

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