ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter) (rs539010725)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Heidelberg University RCV000735820 SCV000855175 pathogenic JOUBERT SYNDROME 33 no assertion criteria provided research The variant is observed as compound heterozygous along with the variant at Chr13:73482688 in the PIBF1 gene.

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