ClinVar Miner

Submissions for variant NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)

dbSNP: rs61750064
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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
OMIM RCV000008338 SCV000028546 pathogenic Severe early-childhood-onset retinal dystrophy 1998-01-01 no assertion criteria provided literature only
Retina International RCV000085558 SCV000117695 not provided not provided no assertion provided not provided

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