ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.2013A>G (p.Glu671=)

gnomAD frequency: 0.00029  dbSNP: rs369326083
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962881 SCV001109991 benign not provided 2023-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962881 SCV001154415 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ZSWIM6: BP4, BP7

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