ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.1083T>C (p.Asn361=)

gnomAD frequency: 0.00008  dbSNP: rs193214847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869869 SCV001011330 likely benign Woodhouse-Sakati syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275145 SCV002563615 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing DCAF17: BP4

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