ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3050+16A>G

gnomAD frequency: 0.00055  dbSNP: rs111546154
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401352 SCV001603174 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001401352 SCV001891706 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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