ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1172del (p.Lys391fs)

dbSNP: rs1570407032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002845 SCV001160867 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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