ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) (rs104893679)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002121 SCV000022279 pathogenic Bardet-Biedl syndrome 3 2004-09-01 no assertion criteria provided literature only
OMIM RCV000002122 SCV000022280 risk factor Bardet-Biedl syndrome 1, modifier of 2004-09-01 no assertion criteria provided literature only

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