ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1848del (p.Glu616fs)

dbSNP: rs61751386
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008342 SCV000028550 pathogenic Retinitis pigmentosa 19 1998-01-01 no assertion criteria provided literature only
Retina International RCV000085435 SCV000117572 not provided not provided no assertion provided not provided

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