ClinVar Miner

Submissions for variant NM_014960.5(ARSG):c.133G>T (p.Asp45Tyr) (rs1568445893)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000710003 SCV000840368 pathogenic Usher syndrome, type 4 2018-10-11 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002872 SCV001160902 pathogenic Usher syndrome 2019-06-23 no assertion criteria provided research

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