ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.533C>T (p.Ala178Val) (rs375314973)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tolun Lab, Human Genetics Laboratory,Bogazici University RCV000585748 SCV000583519 uncertain significance Bardet-Biedl syndrome 21 no assertion criteria provided research It is a missense variant.

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