ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.3039G>A (p.Ala1013=)

gnomAD frequency: 0.00021  dbSNP: rs374621238
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115685 SCV002410651 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002115685 SCV002497329 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ZSWIM6: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV002115685 SCV005299219 benign not provided criteria provided, single submitter not provided

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