ClinVar Miner

Submissions for variant NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)

dbSNP: rs1559307932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences RCV000721961 SCV000853100 likely pathogenic Joubert syndrome 22 2018-03-15 no assertion criteria provided clinical testing
OMIM RCV000721961 SCV001451964 pathogenic Joubert syndrome 22 2020-12-29 no assertion criteria provided literature only

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