ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)

gnomAD frequency: 0.00337  dbSNP: rs140760439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964469 SCV001111683 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964469 SCV004032599 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ZSWIM6: BS2
GenomeConnect, ClinGen RCV000709778 SCV000840101 not provided Acromelic frontonasal dysostosis no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003918142 SCV004735833 benign ZSWIM6-related disorder 2019-05-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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