ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile)

gnomAD frequency: 0.00060  dbSNP: rs140137262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618285 SCV001846557 benign not provided 2019-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001618285 SCV002394208 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259648 SCV002539539 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618285 SCV005208591 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000120110 SCV000084247 not provided not specified 2013-09-19 no assertion provided reference population

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