ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3773G>A (p.Ser1258Asn)

gnomAD frequency: 0.00001  dbSNP: rs367569965
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815917 SCV002062433 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing

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