ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2841C>T (p.Asp947=)

gnomAD frequency: 0.00001  dbSNP: rs200551567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928508 SCV001074119 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890080 SCV004704813 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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