ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr)

gnomAD frequency: 0.00006  dbSNP: rs138044729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591736 SCV000705787 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV000591736 SCV002345670 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000591736 SCV002504058 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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