ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6282+9G>A

gnomAD frequency: 0.00005  dbSNP: rs758705900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073970 SCV001239536 uncertain significance Retinal dystrophy 2018-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001320624 SCV001511419 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing

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