ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3329-11C>T

gnomAD frequency: 0.00011  dbSNP: rs367580653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075245 SCV001240859 uncertain significance Retinal dystrophy 2017-06-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001474935 SCV001474573 likely benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Invitae RCV001474935 SCV001679113 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001474935 SCV001883722 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing

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