ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2571del (p.Asp858fs)

dbSNP: rs61752407
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
Retina International RCV000085490 SCV000117627 not provided not provided no assertion provided not provided
Genomics England Pilot Project, Genomics England RCV001542644 SCV001760055 likely pathogenic Retinitis pigmentosa 19 no assertion criteria provided clinical testing

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